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Fetal anomalies v1.252 VPS50 Ain Roesley reviewed gene: VPS50: Rating: AMBER; Mode of pathogenicity: None; Publications: 38876772; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v1.245 FUZ Chirag Patel reviewed gene: FUZ: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38702430, 29068549, 34719684; Phenotypes: Ciliopathy_MONDO_0005308, skeletal ciliopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v1.245 LIG4 Santosh Varughese reviewed gene: LIG4: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 15333585, 20133615, 32534991, 11779494, 16088910; Phenotypes: LIG4 SYNDROME, MULTIPLE MYELOMA, RESISTANCE TO; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.238 PIP5K1C Zornitza Stark reviewed gene: PIP5K1C: Rating: GREEN; Mode of pathogenicity: None; Publications: 38491417; Phenotypes: Lethal congenital contractural syndrome 3, OMIM:611369; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.236 EHBP1L1 Zornitza Stark reviewed gene: EHBP1L1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Non-immune hydrops fetalis, MONDO:0015193, EHBP1L1-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.235 FOSL2 Zornitza Stark reviewed gene: FOSL2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Aplasia cutis-enamel dysplasia syndrome, MIM# 620789; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v1.230 FILIP1 Zornitza Stark reviewed gene: FILIP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neuromuscular disorder, congenital, with dysmorphic facies, MIM# 620775; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.229 FRYL Zornitza Stark reviewed gene: FRYL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: neurodevelopmental disorder MONDO:0700092, FRYL-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v1.222 SASS6 Ain Roesley reviewed gene: SASS6: Rating: GREEN; Mode of pathogenicity: None; Publications: 38501757, 36739862; Phenotypes: Microcephaly 14, primary, autosomal recessive, MIM# 616402; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v1.220 USP14 Zornitza Stark reviewed gene: USP14: Rating: GREEN; Mode of pathogenicity: None; Publications: 38469793; Phenotypes: Syndromic disease MONDO:0002254, USP14-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.218 WASHC5 Ain Roesley reviewed gene: WASHC5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ritscher-Schinzel syndrome 1 MIM#220210; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v1.217 SLC37A4 Ain Roesley reviewed gene: SLC37A4: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v1.215 PRDM6 Ain Roesley reviewed gene: PRDM6: Rating: ; Mode of pathogenicity: None; Publications: 38071433; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes
Fetal anomalies v1.212 KDR Ain Roesley changed review comment from: PMID:30232381
5x families (6 affecteds) with ToF: 2x PTCs + 2x missense + 1x inframe del
noted that all individuals were adults at time of assessment but known to have ToF and/or other CHD

PMID:34113005;
1x family with 2 affecteds, Chet for 2x missense
Sources: Literature; to: GREEN for AD
RED for AR

PMID:30232381
5x families (6 affecteds) with ToF: 2x PTCs + 2x missense + 1x inframe del
noted that all individuals were adults at time of assessment but known to have ToF and/or other CHD

PMID: 34328347;
cohort of ToF, looking into LoF variants
4x identified + 1x classified as VUS (stop gain in penultimate exon)
1x stop gain citing PMID: 28991257

PMID:34113005;
1x family with 2 affecteds, Chet for 2x missense



Sources: Literature
Fetal anomalies v1.198 HSPG2 Dean Phelan reviewed gene: HSPG2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38424183; Phenotypes: Dyssegmental dysplasia, Rolland-Desbuquois type (MONDO:0009139); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.198 NARS Zornitza Stark reviewed gene: NARS: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities, autosomal recessive, MIM# 619091; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.188 MAX Zornitza Stark reviewed gene: MAX: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Polydactyly-macrocephaly syndrome, MIM# 620712; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v1.184 PIEZO1 Naomi Baker reviewed gene: PIEZO1: Rating: RED; Mode of pathogenicity: None; Publications: PMID:38184690; Phenotypes: Prune belly syndrome (MONDO:0007032), PIEZO1-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.182 WDR44 Andrew Fennell gene: WDR44 was added
gene: WDR44 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: WDR44 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: WDR44 were set to PMID: 38191484
Phenotypes for gene: WDR44 were set to Ciliopathy, MONDO:0005308, WDR44-related
Review for gene: WDR44 was set to GREEN
Added comment: 11 male patients with 6 missense and 1 nonsense variant in WDR44 displaying a wide range of cognitive impairment and variable congenital anomalies associated with primary cilium dysfunction. All patients had learning difficulties with 8 labelled as intellectually disabled (mild-moderate). Other clinical features included anomalies of craniofacial, musculoskeletal, brain, renal and cardiac development.
WDR44 is a negative regulator of ciliogenesis. Increased binding is hypothesised to underlie the pathogenicity of WDR44 variants identified in this cohort. Functional data supported impaired ciliogenesis initiation in patient fibroblasts and a zebrafish model. A zebrafish model recapitulated the human phenotype when morphants expressed WDR44 L668S, D669N, S764F, G782C, H839R, and R733* variants. Of note, D648G or N840S did not recapitulate the phenotype in the zebrafish model.
The studies supported a GoF mechanism, but the authors could not rule out that LoF of WDR44 contributes to the ciliopathy-like phenotype observed, because protein expression data was only available for a limited number of patients.
Sources: Literature
Fetal anomalies v1.182 CELSR1 Chern Lim reviewed gene: CELSR1: Rating: AMBER; Mode of pathogenicity: None; Publications: 38272662; Phenotypes: hydrops fetalis (MONDO:0015193), CELSR1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v1.173 RAP1B Zornitza Stark reviewed gene: RAP1B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Thrombocytopenia 1 with multiple congenital anomalies and dysmorphic facies, MIM# 620654; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v1.170 MMP13 Zornitza Stark reviewed gene: MMP13: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Metaphyseal anadysplasia 1 (MIM#602111), Metaphyseal dysplasia, Spahr type (MIM#250400); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v1.168 PKP2 Zornitza Stark reviewed gene: PKP2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Dilated cardiomyopathy, MONDO:0005021, PKP2-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.165 PLS3 Zornitza Stark reviewed gene: PLS3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Diaphragmatic hernia 5, X-linked, MIM# 306950; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v1.152 PLS3 Lauren Rogers reviewed gene: PLS3: Rating: GREEN; Mode of pathogenicity: None; Publications: 37751738; Phenotypes: congenital diaphragmatic hernia MONDO:0005711, PLS3-related; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v1.143 SCAF4 Zornitza Stark reviewed gene: SCAF4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fliedner-Zweier syndrome, MIM#620511; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v1.142 DBR1 Chern Lim edited their review of gene: DBR1: Added comment: PMID: 37656279:
- A homozygous missense as a founder recessive DBR1 variant in four consanguineous families.
- Total of 7 affected children. WES done for one proband from each family.
- Consistent features include prematurity, severe intrauterine growth deficiency, congenital ichthyosis-like presentation (collodion membrane, severe skin peeling and xerosis), and death before the first year of life.
- RNA and protein studies using fibroblasts derived from a patient are supportive of pathogenicity: RNA-seq, rt-qPCR and western blotting, showing marked reduction of DBR1 level and intronic RNA lariat accumulation in the patient sample.
- Haplotype analysis revealed that the four families all share a haplotype extending at least 2.27 Mb around the c.200A>G p.(Tyr67Cys) DBR1 founder variant.
- Authors proposed this is a novel DBR1-related developmental disorder that is distinct from DBR1-related encephalitis susceptibility, and highlighted the apparent lack of correlation with the degree of DBR1 deficiency.; Changed phenotypes: Ichthyosis (MONDO#0019269), DBR1-related
Fetal anomalies v1.140 DBR1 Chern Lim gene: DBR1 was added
gene: DBR1 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: DBR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DBR1 were set to 37656279
Phenotypes for gene: DBR1 were set to Prematurity, severe intrauterine growth deficiency, congenital ichthyosis-like presentation, and death before the first year of life
Review for gene: DBR1 was set to AMBER
gene: DBR1 was marked as current diagnostic
Added comment: PMID: 37656279:
- A homozygous missense as a founder recessive DBR1 variant in four consanguineous families.
- Consistent features include prematurity, severe intrauterine growth deficiency, congenital ichthyosis-like presentation (collodion membrane, severe skin peeling and xerosis), and death before the first year of life.
- RNA and protein studies using fibroblasts derived from a patient are supportive of pathogenicity: RNA-seq, rt-qPCR and western blotting, showing marked reduction of DBR1 level and intronic RNA lariat accumulation in the patient sample.
- Haplotype analysis revealed that the four families all share a haplotype extending at least 2.27 Mb around the c.200A>G p.(Tyr67Cys) DBR1 founder variant.
- Authors proposed this is a novel DBR1-related developmental disorder that is distinct from DBR1-related encephalitis susceptibility, and highlighted the apparent lack of correlation with the degree of DBR1 deficiency.
Sources: Literature
Fetal anomalies v1.139 SOX11 Zornitza Stark reviewed gene: SOX11: Rating: GREEN; Mode of pathogenicity: None; Publications: 29459093, 24886874, 33086258, 33785884, 35642566, 35341651; Phenotypes: Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism, MIM# 615866; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v1.135 PLCB4 Zornitza Stark reviewed gene: PLCB4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Auriculocondylar syndrome 2A, MIM# 614669, Auriculocondylar syndrome 2B, MIM# 620458; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v1.132 PHF5A Daniel Flanagan reviewed gene: PHF5A: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 37422718; Phenotypes: Neurodevelopmental disorder (MONDO#0700092), PHF5A-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v1.123 PTCH1 Chirag Patel reviewed gene: PTCH1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Bladder exstrophy and epispadias complex (BEEC); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v1.107 SCN4A Zornitza Stark reviewed gene: SCN4A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital myopathy 22B, severe fetal, MIM# 620369; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.107 ESAM Zornitza Stark Phenotypes for gene: ESAM were changed from Neurodevelopmental disorder (MONDO#0700092), ESAM-related to Neurodevelopmental disorder with intracranial haemorrhage, seizures, and spasticity, MIM# 620371
Fetal anomalies v1.106 ESAM Zornitza Stark reviewed gene: ESAM: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with intracranial haemorrhage, seizures, and spasticity, MIM# 620371; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.99 C16orf62 Chirag Patel reviewed gene: C16orf62: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 36113987; Phenotypes: Ritscher-Schinzel syndrome-3 (RTSC3), MIM#619135; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.93 CRIPT Karina Sandoval reviewed gene: CRIPT: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 37013901; Phenotypes: Short stature with microcephaly and distinctive facies (MIM#615789), Rothmund-Thomson syndrome MONDO:0010002; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.93 ACTC1 Lilian Downie reviewed gene: ACTC1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 36945405; Phenotypes: Atrial septal defect 5 MIM#612794, Cardiomyopathy, dilated, 1R MIM#613424, Cardiomyopathy, hypertrophic, 11 MIM#612098, ACTC1 related distal arthrogryposis MONDO:0019942; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v1.93 ESAM Chern Lim gene: ESAM was added
gene: ESAM was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: ESAM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ESAM were set to 36996813
Phenotypes for gene: ESAM were set to Neurodevelopmental disorder (MONDO#0700092), ESAM-related
Review for gene: ESAM was set to GREEN
gene: ESAM was marked as current diagnostic
Added comment: PMID 36996813
- Thirteen affected individuals, including four fetuses, from eight unrelated families, with homozygous loss-of-function-type variants in ESAM – 2 of the variants are frameshifts, 1x nonsense, 1x canonical splice.
- Affected individuals have profound global developmental delay/unspecified intellectual disability, epilepsy, absent or severely delayed speech, varying degrees of spasticity, ventriculomegaly, and ICH/cerebral calcifications, the latter being also observed in the fetuses.
- One of the frameshift variant c.115del (p.Arg39Glyfs*33), was detected in six individuals from four unrelated families from the same geographic region in Turkey (southeastern Anatolia), suggesting a founder effect.
- The c.451+1G>A variant was detected in three individuals from two independent families with the same ethnic origin (Arab Bedouin)
Sources: Literature
Fetal anomalies v1.92 SLC31A1 Zornitza Stark reviewed gene: SLC31A1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodegeneration and seizures due to copper transport defect, MIM# 620306; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.88 HMGB1 Ain Roesley reviewed gene: HMGB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 36755093, 34159400; Phenotypes: brachyphalangy, polydactyly, and tibial aplasia/hypoplasia MIM#163905; Mode of inheritance: None; Current diagnostic: yes
Fetal anomalies v1.88 CRIPT Suliman Khan reviewed gene: CRIPT: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 36630262; Phenotypes: Short stature with microcephaly and distinctive facies; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.82 TGFBR1 Alison Yeung reviewed gene: TGFBR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 36584339; Phenotypes: Loeys-Dietz syndrome 1, MIM# 609192; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Fetal anomalies v1.79 CDK5 Zornitza Stark reviewed gene: CDK5: Rating: AMBER; Mode of pathogenicity: None; Publications: 25560765, 32273484, 32097629, 28854363, 7490100; Phenotypes: Lissencephaly 7 with cerebellar hypoplasia, MIM# 616342; Mode of inheritance: None
Fetal anomalies v1.76 SHROOM4 Alison Yeung reviewed gene: SHROOM4: Rating: GREEN; Mode of pathogenicity: None; Publications: 36379543; Phenotypes: Congenital anomaly of the kidney and urinary tracy (CAKUT), SHROOM4-related, MONDO:0019719; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v1.76 PDIA6 Chirag Patel reviewed gene: PDIA6: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 35856135; Phenotypes: Polycystic kidney disease, infancy-onset diabetes, and microcephaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.76 MBTPS1 Krithika Murali reviewed gene: MBTPS1: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ?Spondyloepiphyseal dysplasia, Kondo-Fu type - MIM#618392; Mode of inheritance: None
Fetal anomalies v1.75 FRA10AC1 Zornitza Stark reviewed gene: FRA10AC1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities, MIM# 620113; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.70 ADAMTS19 Zornitza Stark reviewed gene: ADAMTS19: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardiac valvular dysplasia 2, MIM# 620067; Mode of inheritance: None
Fetal anomalies v1.69 PDCD6IP Zornitza Stark reviewed gene: PDCD6IP: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Microcephaly 29, primary, autosomal recessive, MIM# 620047; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.69 USP9X Krithika Murali reviewed gene: USP9X: Rating: GREEN; Mode of pathogenicity: None; Publications: 31443933, 26833328; Phenotypes: Mental retardation, X-linked 99, XLR (MIM#300919) and XLD (MIM#300968); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fetal anomalies v1.66 ALDH1A2 Zornitza Stark reviewed gene: ALDH1A2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Diaphragmatic hernia 4, with cardiovascular defects, MIM# 620025; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.65 CHKA Zornitza Stark reviewed gene: CHKA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures, MIM#620023; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.61 NPNT Zornitza Stark reviewed gene: NPNT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Renal agenesis, MONDO:0018470, NPNT-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.56 MDFIC Zornitza Stark reviewed gene: MDFIC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Lymphatic malformation 12, MIM# 620014; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.55 SETD5 Zornitza Stark reviewed gene: SETD5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual disability, autosomal dominant 23 (MIM # 615761); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v1.54 ZMYND8 Zornitza Stark gene: ZMYND8 was added
gene: ZMYND8 was added to Fetal anomalies. Sources: Expert Review
Mode of inheritance for gene: ZMYND8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ZMYND8 were set to 35916866; 32530565
Phenotypes for gene: ZMYND8 were set to Neurodevelopmental disorder, MONDO:0700092, ZMYND8-related; Delayed speech and language development; Motor delay; Intellectual disability; Abnormality of cardiovascular system morphology; Hearing abnormality; Abnormality of vision; Abnormality of the face; Seizures
Review for gene: ZMYND8 was set to GREEN
Added comment: Dias et al (2022 - PMID: 35916866) describe the phenotype of 11 unrelated individuals with monoallelic de novo (or suspected de novo) missense (N=9) or truncating (N=2) ZMYND8 variants. One of these subjects was previously reported by Suzuki et al (2020 - PMID: 32530565).

Features included speech delay/language difficulties (9/11), motor delay (9/11), ID (in 10/11 - profound in 1, moderate in 2), CHD (7/11 - PDA, VSD, ASD, pulmonary stenosis, etc), hearing or vision impairment (7/11). Seizures were reported in few (in text 5/11, table 2/11). Variable non-familial facial features were present in (9/11).

As the authors discuss, ZMYND8 encodes a multidomain protein playing a role in transcription regulation, chromatin remodeling, regulation of super enhancers, DNA damage response/tumor suppression.

The protein is broadly expressed in brain and shows highest expression in early development.

Molecular modeling and/or a yeast two-hybrid system were suggestive of disrupted interaction of ZMYND8 with Drebrin (missense variants in PWWP domain) or GATAD2A (variants in MYND domain).

Neuronal Zmynd8 knockdown in Drosophila resulted in deficits in habituation learning.
Sources: Expert Review
Fetal anomalies v1.52 PRIM1 Zornitza Stark reviewed gene: PRIM1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Primordial dwarfism-immunodeficiency-lipodystrophy syndrome, MIM# 620005; Mode of inheritance: None
Fetal anomalies v1.51 BMP3 Seb Lunke gene: BMP3 was added
gene: BMP3 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: BMP3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BMP3 were set to 35089417
Phenotypes for gene: BMP3 were set to coloboma, MONDO:0001476; microphthalmia, MONDO:0021129
Added comment: Single missense variant identified segregating with disease following WES screen in a family with coloboma and/or microphthalmia in BMP3. Two additional unrelated patients identified with different missense in BMP3. Pathogenicity however largely on in-silicos, with one of the 3 missense having 29 hets in gnomAD. Additional functional work in bmp3 -/- zebra fish and some supporting evidence but not conclusive.
Sources: Literature
Fetal anomalies v1.39 PAN2 Zornitza Stark reviewed gene: PAN2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Syndromic disease MONDO:0002254; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.36 ADD1 Zornitza Stark gene: ADD1 was added
gene: ADD1 was added to Fetal anomalies. Sources: Expert Review
Mode of inheritance for gene: ADD1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: ADD1 were set to 34906466
Phenotypes for gene: ADD1 were set to Neurodevelopmental disorder MONDO:0700092, ADD1-related
Review for gene: ADD1 was set to GREEN
Added comment: 4 unrelated individuals affected by ID and/or complete or partial agenesis of corpus callosum, and enlarged lateral ventricles. WES found loss-of-function variants - 1 recessive missense variant and 3 de novo variants. The recessive variant is associated with ACC and enlarged lateral ventricles, and the de novo variants were associated with complete or partial agenesis of corpus callosum, mild ID and attention deficit. Human variants impair ADD1 protein expression and/or dimerization with ADD2. Add1 knockout mice recapitulate corpus callosum dysgenesis and ventriculomegaly phenotypes. Three adducin genes (ADD1, ADD2, and ADD3) encode cytoskeleton proteins that are critical for osmotic rigidity and cell shape. ADD1, ADD2, and ADD3 form heterodimers (ADD1/ADD2, ADD1/ADD3), which further form heterotetramers. Adducins interconnect spectrin and actin filaments to form polygonal scaffolds beneath the cell membranes and form ring-like structures in neuronal axons. Adducins regulate mouse neural development, but their function in the human brain is unknown
Sources: Expert Review
Fetal anomalies v1.34 PLCH1 Zornitza Stark reviewed gene: PLCH1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Holoprosencephaly 14, MIM# 619895; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.31 GFRA1 Zornitza Stark reviewed gene: GFRA1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Renal hypodysplasia/aplasia 4, MIM# 619887; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.29 ZNF526 Zornitza Stark reviewed gene: ZNF526: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Dentici-Novelli neurodevelopmental syndrome, MIM# 619877; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.25 FTO Bryony Thompson reviewed gene: FTO: Rating: GREEN; Mode of pathogenicity: None; Publications: 19234441, 19559399, 26378117, 26697951, 26378117, 26740239; Phenotypes: Growth retardation, developmental delay, facial dysmorphism MIM#612938; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.22 COASY Ain Roesley reviewed gene: COASY: Rating: ; Mode of pathogenicity: None; Publications: 35499143; Phenotypes: Pontocerebellar hypoplasia, type 12, MIM#618266; Mode of inheritance: None; Current diagnostic: yes
Fetal anomalies v1.21 ATP11A Zornitza Stark reviewed gene: ATP11A: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Leukodystrophy, hypomyelinating, 24 , MIM# 619851; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v1.15 MDFIC Belinda Chong gene: MDFIC was added
gene: MDFIC was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: MDFIC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MDFIC were set to 35235341
Phenotypes for gene: MDFIC were set to Hydrops fetalis MONDO:0015193
Review for gene: MDFIC was set to GREEN
Added comment: Central conducting lymphatic anomaly (CCLA), characterized by the dysfunction of core collecting lymphatic vessels including the thoracic duct and cisterna chyli, and presenting as chylothorax, pleural effusions, chylous ascites, and lymphedema, is a severe disorder often resulting in fetal or perinatal demise.

Seven individuals with CCLA from six independent families. Clinical manifestations of affected fetuses and children included nonimmune hydrops fetalis (NIHF), pleural and pericardial effusions, and lymphedema. Generation of a mouse model of human MDFIC truncation variants revealed that homozygous mutant mice died perinatally exhibiting chylothorax.
Sources: Literature
Fetal anomalies v1.11 NDUFS4 Krithika Murali reviewed gene: NDUFS4: Rating: GREEN; Mode of pathogenicity: None; Publications: 11181577, 11165261, 16478720, 10944442, 24295889, 22326555; Phenotypes: Mitochondrial complex I deficiency, nuclear type 1 - MIM#252010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.7 UNC80 Ain Roesley reviewed gene: UNC80: Rating: AMBER; Mode of pathogenicity: None; Publications: 26545877; Phenotypes: Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, MIM# 616801, MONDO:0014777; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v1.0 MAN2C1 Zornitza Stark reviewed gene: MAN2C1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of deglycosylation 2, MIM# 619775; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.4731 OXR1 Zornitza Stark reviewed gene: OXR1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay - MIM#213000; Mode of inheritance: None
Fetal anomalies v0.4729 MED27 Krithika Murali gene: MED27 was added
gene: MED27 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: MED27 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MED27 were set to 33443317
Phenotypes for gene: MED27 were set to Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia - MIM#619286
Review for gene: MED27 was set to GREEN
Added comment: Severe neurodevelopmental disorder with onset in infancy associated with multiple, significant brain anomalies which may be detectable antenatally (although antenatal phenotype not reported in published cases)
Sources: Literature
Fetal anomalies v0.4717 CAPN15 Zornitza Stark gene: CAPN15 was added
gene: CAPN15 was added to Fetal anomalies. Sources: Expert Review
Mode of inheritance for gene: CAPN15 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CAPN15 were set to 32885237
Phenotypes for gene: CAPN15 were set to Oculogastrointestinal neurodevelopmental syndrome, MIM# 619318; microphthalmia HP:0000568; coloboma HP:0000589
Review for gene: CAPN15 was set to GREEN
Added comment: PMID: 32885237 - Zha et al 2020 - report 5 individuals with microphthalmia and/or coloboma from 4 independent families who, through WES, were identified as carrying homozygous or compound heterozygous missense variants in CAPN15 that are predicted to be damanging. the variants segregated with the disease in all 4 families, with parents being unaffected heterozygous carriers. Several individuals had additional phenotypes including growth deficits (2 families), developmental delay (2 families) and hearing loss (2 families). Capn15 knockout mice showed similar severe developmental eye defects, including anophthalmia, microphthalmia and cataract, and diminished growth.
Sources: Expert Review
Fetal anomalies v0.4699 MINPP1 Krithika Murali gene: MINPP1 was added
gene: MINPP1 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: MINPP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MINPP1 were set to 33257696; 33168985
Phenotypes for gene: MINPP1 were set to Pontocerebellar hypoplasia, type 16 - MIM#619527
Review for gene: MINPP1 was set to GREEN
Added comment: Biallelic LoF variants associated with pontocerebellar hypoplasia. Early-onset progressive microcephaly is a phenotypic feature with one affected individual reported to have prenatal evidence of microcephaly associated with increased thalami echogenicity (PMID 33257696)
Sources: Literature
Fetal anomalies v0.4690 PUS7 Zornitza Stark reviewed gene: PUS7: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature, OMIM #618342; Mode of inheritance: None
Fetal anomalies v0.4686 PTPN23 Belinda Chong gene: PTPN23 was added
gene: PTPN23 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: PTPN23 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PTPN23 were set to 31395947; 29899372; 29090338; 27848944; 25558065
Phenotypes for gene: PTPN23 were set to Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity, MIM# 618890
Review for gene: PTPN23 was set to GREEN
gene: PTPN23 was marked as current diagnostic
Added comment: Onset at birth or early infancy.

Over 10 families reported with an autosomal recessive neurologic disorder characterised by global developmental delay apparent from early infancy, poor overall growth often with microcephaly (6/10), impaired intellectual development with delayed or absent speech, axial hypotonia, and peripheral spasticity. Additional common but variable features include early-onset seizures, optic atrophy with poor visual fixation, and dysmorphic facial features. Brain imaging shows cerebral atrophy, poor or absent myelination with loss of white matter volume, and often hypoplasia of the corpus callosum and/or cerebellum.
Sources: Literature
Fetal anomalies v0.4686 HIST1H4C Paul De Fazio reviewed gene: HIST1H4C: Rating: GREEN; Mode of pathogenicity: None; Publications: 35202563; Phenotypes: Tessadori-van Haaften neurodevelopmental syndrome 1 MIM#619758, Neurodevelopmental disorder, HIST1H4C-related MONDO:0700092; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Fetal anomalies v0.4684 PIDD1 Zornitza Stark reviewed gene: PIDD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pachygyria, Lissencephaly, Abnormality of the corpus callosum; Mode of inheritance: None
Fetal anomalies v0.4683 DEPDC5 Zornitza Stark reviewed gene: DEPDC5: Rating: GREEN; Mode of pathogenicity: None; Publications: 31444548; Phenotypes: Epilepsy, familial focal, with variable foci 1 MIM#604364; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.4682 AR Alison Yeung reviewed gene: AR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Androgen insensitivity, MIM# 300068, Androgen insensitivity syndrome, MONDO:0019154; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v0.4682 AP4B1 Alison Yeung reviewed gene: AP4B1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic paraplegia 47, autosomal recessive, MIM# 614066; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.4682 ANKS6 Alison Yeung reviewed gene: ANKS6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Nephronophthisis 16, MIM# 615382, MONDO:0014158; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.4674 PIGH Zornitza Stark reviewed gene: PIGH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Glycosylphosphatidylinositol biosynthesis defect 17, MIM# 618010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.4654 NIPBL Alison Yeung reviewed gene: NIPBL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cornelia de Lange syndrome 1, MIM# 122470; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.4650 NRAS Zornitza Stark Mode of pathogenicity for gene: NRAS was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Fetal anomalies v0.4642 NSDHL Zornitza Stark reviewed gene: NSDHL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: CK syndrome , MIM#300831; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v0.4628 PEX10 Zornitza Stark reviewed gene: PEX10: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Peroxisome biogenesis disorder 6A (Zellweger), MIM# 614870; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.4624 PEX12 Zornitza Stark reviewed gene: PEX12: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Peroxisome biogenesis disorder 3A (Zellweger), MIM# 614859; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.4622 PEX13 Zornitza Stark reviewed gene: PEX13: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Peroxisome biogenesis disorder 11A (Zellweger), MIM# 614883; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.4620 PEX14 Zornitza Stark reviewed gene: PEX14: Rating: GREEN; Mode of pathogenicity: None; Publications: 26627464; Phenotypes: Peroxisome biogenesis disorder 13A (Zellweger), MIM# 614887; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.4618 PEX16 Zornitza Stark reviewed gene: PEX16: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Peroxisome biogenesis disorder 8A (Zellweger), MIM# 614876; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.4615 PEX19 Zornitza Stark reviewed gene: PEX19: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Peroxisome biogenesis disorder 12A (Zellweger), MIM# 614886; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.4613 PEX2 Zornitza Stark reviewed gene: PEX2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Peroxisome biogenesis disorder 5A (Zellweger), MIM# 614866; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.4611 PEX26 Zornitza Stark reviewed gene: PEX26: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Peroxisome biogenesis disorder 7A (Zellweger), MIM# 614872; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.4609 PEX3 Zornitza Stark reviewed gene: PEX3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Peroxisome biogenesis disorder 10A (Zellweger), MIM# 614882; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.4607 PEX5 Zornitza Stark reviewed gene: PEX5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Peroxisome biogenesis disorder 2A (Zellweger), MIM# 214110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.4559 PMM2 Zornitza Stark reviewed gene: PMM2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of glycosylation, type Ia , MIM#212065; Mode of inheritance: None
Fetal anomalies v0.4540 PPP2R1A Zornitza Stark Mode of pathogenicity for gene: PPP2R1A was changed from to Other
Fetal anomalies v0.4532 PCYT2 Belinda Chong gene: PCYT2 was added
gene: PCYT2 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: PCYT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PCYT2 were set to 31637422
Phenotypes for gene: PCYT2 were set to Spastic paraplegia 82, autosomal recessive MIM#618770
Review for gene: PCYT2 was set to RED
gene: PCYT2 was marked as current diagnostic
Added comment: Brain imaging shows progressive cerebral and cerebellar atrophy however, normal initially.

5 individuals from 4 families reported with progressive neurologic disorder characterized by global developmental delay apparent from infancy, significant motor impairment, and progressive spasticity mainly affecting the lower limbs. Some never achieved walking, whereas others lost the ability to walk or walk with an unsteady gait. Additional features included variably impaired intellectual development with language difficulties, ocular anomalies, such as nystagmus and visual impairment, and seizures. Brain imaging shows progressive cerebral and cerebellar atrophy, as well as white matter hyperintensities. Overall poor growth, but only one individual reported with microcephaly -3SD, and head size appears relatively spared against other reported growth parameters.
Sources: Literature
Fetal anomalies v0.4532 PCDH12 Belinda Chong gene: PCDH12 was added
gene: PCDH12 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: PCDH12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PCDH12 were set to 27164683; 30178464
Phenotypes for gene: PCDH12 were set to Diencephalic-mesencephalic junction dysplasia syndrome 1, MIM# 251280
Review for gene: PCDH12 was set to GREEN
gene: PCDH12 was marked as current diagnostic
Added comment: Brain malformations were detectable antenatally.

Diencephalic-mesencephalic junction dysplasia syndrome-1 (DMJDS1) is an autosomal recessive neurodevelopmental disorder characterized by progressive microcephaly, severely delayed or even absent psychomotor development with profound intellectual disability, and spasticity or dystonia. Some patients may have seizures and/or visual impairment. Brain imaging shows a characteristic developmental malformation of the midbrain; subtle intracranial calcifications may also be present. At least 12 families reported.
Sources: Literature
Fetal anomalies v0.4503 RAC1 Zornitza Stark Mode of pathogenicity for gene: RAC1 was changed from to Other
Fetal anomalies v0.4496 RAF1 Zornitza Stark Mode of pathogenicity for gene: RAF1 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Fetal anomalies v0.4478 MCM7 Krithika Murali gene: MCM7 was added
gene: MCM7 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: MCM7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MCM7 were set to 33654309; 34059554
Phenotypes for gene: MCM7 were set to Meier-Gorlin syndrome; Microcephaly; Intellectual disability; Lipodystrophy; Adrenal insufficiency
Review for gene: MCM7 was set to AMBER
Added comment: Association with congenital microcephaly. No new publications since last PanelApp review

---

MCM7 is a component of the MCM complex, a DNA helicase which is essential for DNA replication. Other components have been linked to disease with phenotypes including microcephaly and ID. MCM7 is not associated with any phenotype in OMIM or G2P at present. ------ Currently there are 3 unrelated pedigrees in literature with different biallelic MCM7 variants associated with disease (see below). Although there is some functional data in support of variant-level deleteriousness or gene-level pathogenicity, the clinical gestalt is very different between the 3 families.

- PMID: 33654309 (2021) - Two unrelated individuals with different compound het variants in MCM7 but disparate clinical features. One patient had typical Meier-Gorlin syndrome (including growth retardation, microcephaly, congenital lung emphysema, absent breast development, microtia, facial dysmorphism) whereas the second case had a multi-system disorder with neonatal progeroid appearance, lipodystrophy and adrenal insufficiency. While small at birth, the second patient did not demonstrate reduced stature or microcephaly at age 14.5 years. Both individuals had normal neurodevelopment. Functional studies using patient-derived fibroblasts demonstrate that the identified MCM7 variants were deleterious at either transcript or protein levels and through interfering with MCM complex formation, impact efficiency of S phase progression.

- PMID: 34059554 (2021) - Homozygous missense variant identified in three affected individuals from a consanguineous family with severe primary microcephaly, severe ID and behavioural abnormalities. Knockdown of Mcm7 in mouse neuroblastoma cells lead to reduced cell viability and proliferation with increased apoptosis, which were rescued by overexpression of wild-type but not mutant MCM7.
Sources: Literature
Fetal anomalies v0.4478 LINGO1 Krithika Murali gene: LINGO1 was added
gene: LINGO1 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: LINGO1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LINGO1 were set to 28837161; 31668702
Phenotypes for gene: LINGO1 were set to Mental retardation, autosomal recessive 64 - MIM#618103
Review for gene: LINGO1 was set to AMBER
Added comment: 5 individuals reported from 2 families. 4 out of the 5 individuals had microcephaly. ID, developmentatl delay, spasticity, hypertonia, feeding problems also reported features. No antenatal information or birth growth parameters provided, but it is possible that microcephaly was antenatal/congenital in onset based on other phenotypic features reported.
Sources: Literature
Fetal anomalies v0.4476 PSAP Seb Lunke reviewed gene: PSAP: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Combined SAP deficiency, MIM# 611721, Encephalopathy due to prosaposin deficiency, MONDO:0012719, Krabbe disease, atypical, MIM# 611722, MONDO:0012720, Metachromatic leukodystrophy due to SAP-b deficiency, MIM# 249900, MONDO:0009590, Gaucher disease, atypical, MIM# 610539, MONDO:0012517 Edit; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.4453 RIT1 Zornitza Stark Mode of pathogenicity for gene: RIT1 was changed from Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Fetal anomalies v0.4453 RIT1 Zornitza Stark Mode of pathogenicity for gene: RIT1 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Fetal anomalies v0.4449 RNU4ATAC Zornitza Stark Mode of pathogenicity for gene: RNU4ATAC was changed from to Other
Fetal anomalies v0.4443 ROGDI Zornitza Stark changed review comment from: Kohlschutter-Tonz syndrome (KTZS) is an autosomal recessive disorder characterized by severe global developmental delay, early-onset intractable seizures, spasticity, and amelogenesis imperfecta affecting both primary and secondary teeth and causing yellow or brown discolouration of the teeth. More than 10 families reported.; to: Kohlschutter-Tonz syndrome (KTZS) is an autosomal recessive disorder characterized by severe global developmental delay, early-onset intractable seizures, spasticity, and amelogenesis imperfecta affecting both primary and secondary teeth and causing yellow or brown discolouration of the teeth. More than 10 families reported.

Cerebellar hypoplasia and ventriculomegaly described.
Fetal anomalies v0.4395 SHOC2 Zornitza Stark Mode of pathogenicity for gene: SHOC2 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Fetal anomalies v0.4391 SIL1 Zornitza Stark reviewed gene: SIL1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Marinesco-Sjogren syndrome (MIM#248800); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.4377 SLC2A10 Zornitza Stark reviewed gene: SLC2A10: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Arterial tortuosity syndrome, MIM# 208050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.4375 SLC35A2 Zornitza Stark reviewed gene: SLC35A2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of glycosylation, type IIm (MIM #300896); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v0.4365 SMARCA2 Zornitza Stark Mode of pathogenicity for gene: SMARCA2 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Fetal anomalies v0.4353 SMO Zornitza Stark Mode of pathogenicity for gene: SMO was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Fetal anomalies v0.4334 GON7 Zornitza Stark reviewed gene: GON7: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Galloway-Mowat syndrome 9, MIM# 619603; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.4331 GOLGA2 Zornitza Stark reviewed gene: GOLGA2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: neuromuscular disease, GOLGA2-related MONDO#0019056; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.4329 CEP85L Zornitza Stark reviewed gene: CEP85L: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Lissencephaly 10, posterior predominant (MIM618873); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.4327 FOXR1 Zornitza Stark reviewed gene: FOXR1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.4322 EXOC7 Zornitza Stark reviewed gene: EXOC7: Rating: GREEN; Mode of pathogenicity: None; Publications: 32103185; Phenotypes: Neurodevelopmental disorder with seizures and brain atrophy MIM#619072; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.4313 ARF1 Zornitza Stark reviewed gene: ARF1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Periventricular nodular heterotopia 8 (MIM#618185); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.4311 VPS4A Chirag Patel gene: VPS4A was added
gene: VPS4A was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: VPS4A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: VPS4A were set to PMID: 33186543; 33186545
Phenotypes for gene: VPS4A were set to CIMDAG syndrome MIM# 619273
Review for gene: VPS4A was set to GREEN
Added comment: CIMDAG syndrome is a multisystemic disorder characterized by severely impaired psychomotor development and hematologic abnormalities apparent from early infancy. Affected individuals show poor overall growth with microcephaly, impaired intellectual development, poor or absent speech, poor eye contact, and motor problems, such as inability to walk, hypotonia, and spasticity. Brain imaging typically shows cerebral and cerebellar atrophy, thin corpus callosum, and delayed myelination. The associated hematologic abnormalities are variable, but are mostly consistent with congenital dyserythropoietic anemia. Eight unrelated patients with de novo heterozygous missense mutations in the VPS4A gene.
Sources: Expert list
Fetal anomalies v0.4295 YIF1B Chirag Patel gene: YIF1B was added
gene: YIF1B was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: YIF1B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: YIF1B were set to PMID: 32006098; 26077767
Phenotypes for gene: YIF1B were set to Kaya-Barakat-Masson syndrome, MIM# 619125
Review for gene: YIF1B was set to GREEN
Added comment: Kaya-Barakat-Masson syndrome (KABAMAS) is a severe autosomal recessive neurodevelopmental disorder characterized by profoundly impaired global development, peripheral spasticity, dystonia, impaired intellectual development with absent speech, poor eye contact, and feeding difficulties, resulting in poor overall growth, sometimes with microcephaly. Additional more variable features include early-onset seizures, ocular anomalies, foot deformities, and nonspecific brain imaging findings, such as thin corpus callosum and cerebral, cerebellar, or pontine atrophy. Some patients may die in infancy or early childhood.

6 individuals (from 5 families) with biallelic YIF1B truncating variants reported. Presenting features: hypotonia, failure to thrive, microcephaly (5/6), severe global DD and ID as well as features suggestive of a motor disorder (dystonia/spasticity/dyskinesia). Seizures were reported in 2 unrelated individuals (2/6). MRI abnormalities were observed in some with thin CC being a feature in 3. Affected individuals were found to be homozygous for truncating variants (4/5 families being consanguineous). The following 3 variants were identified (NM_001039672.2) : c.186dupT or p.Ala64fs / c.360_361insACAT or p.Gly121fs / c.598G>T or p.Glu200*. Yif1B KO mice demonstrate a disorganized Golgi architecture in pyramidal hippocampal neurons (Alterio et al 2015 - PMID: 26077767). Functional/network analysis of genes co-regulated with YIF1B based on available RNAseq data, suggest enrichement in in genes important for nervous system development and function.
Sources: Expert list
Fetal anomalies v0.4285 APC2 Zornitza Stark reviewed gene: APC2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cortical dysplasia, complex, with other brain malformations 10, MIM#618677; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.4275 D2HGDH Zornitza Stark reviewed gene: D2HGDH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: D-2-hydroxyglutaric aciduria, MIM# 600721; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.4273 INTS8 Daniel Flanagan gene: INTS8 was added
gene: INTS8 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: INTS8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: INTS8 were set to 28542170
Phenotypes for gene: INTS8 were set to Neurodevelopmental disorder with cerebellar hypoplasia and spasticity (MIM#618572)
Review for gene: INTS8 was set to RED
Added comment: Single family with three affected sibs with compound het INTS8 variants, Microcephaly, Cerebellar hypoplasia, Nodular heterotopia. Some functional evidence.
Sources: Expert list
Fetal anomalies v0.4270 COLGALT1 Zornitza Stark reviewed gene: COLGALT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Brain small vessel disease 3, MIM# 618360; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.4268 C2orf69 Zornitza Stark reviewed gene: C2orf69: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency-53 (COXPD53), MIM#619423; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.4266 ABHD16A Zornitza Stark reviewed gene: ABHD16A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic paraplegia 86, autosomal recessive, MIM# 619735; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.4266 APC2 Belinda Chong gene: APC2 was added
gene: APC2 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: APC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: APC2 were set to 31585108
Phenotypes for gene: APC2 were set to Cortical dysplasia, complex, with other brain malformations 10, MIM#618677
Review for gene: APC2 was set to RED
gene: APC2 was marked as current diagnostic
Added comment: Onset in infancy

12 individuals from 8 unrelated families; intellectual disability, seizures, cortical dysplasia including posterior to anterior predominant pattern of lissencephaly, heterotopias, paucity of white matter, thin corpus callosum.
Sources: Literature
Fetal anomalies v0.4253 CDX2 Chirag Patel reviewed gene: CDX2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29177441, 34671974; Phenotypes: Congenital abnormalities of anus, renal and urogenital system, vertebrae and/or the limbs; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.4249 NHEJ1 Alison Yeung reviewed gene: NHEJ1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30898087, 30666249, 28741180, 25288157, 24511403, 21721379, 21535335; Phenotypes: Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, MIM# 611291, Cernunnos-XLF deficiency MONDO:0012650; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.4249 NF1 Alison Yeung reviewed gene: NF1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurofibromatosis, type 1, MIM# 162200, Neurofibromatosis-Noonan syndrome, MIM# 601321; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.4241 NDUFAF5 Alison Yeung reviewed gene: NDUFAF5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 16, MIM# 618238; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.4241 NDP Alison Yeung reviewed gene: NDP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Norrie disease, MIM# 310600; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v0.4236 NBN Alison Yeung reviewed gene: NBN: Rating: GREEN; Mode of pathogenicity: None; Publications: 7545870, 2421804, 8914736, 3802554; Phenotypes: Nijmegen breakage syndrome, MIM#251260; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.4229 MYT1 Alison Yeung reviewed gene: MYT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28612832, 32871052, 27358179; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.4219 SOS1 Zornitza Stark Mode of pathogenicity for gene: SOS1 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Fetal anomalies v0.4204 GDF3 Zornitza Stark reviewed gene: GDF3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.4194 ALG14 Zornitza Stark reviewed gene: ALG14: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Myasthenic syndrome, congenital, 15, without tubular aggregates 616227, Myopathy, epilepsy, and progressive cerebral atrophy, MIM# 619036; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.4171 CHST11 Chirag Patel reviewed gene: CHST11: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.4158 LHX4 Chirag Patel reviewed gene: LHX4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.4141 SOST Seb Lunke reviewed gene: SOST: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301406, 35160258, 21221996, 17853455; Phenotypes: Sclerosteosis 1, OMIM#122860, Craniodiaphyseal dysplasia, OMIM#122860; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.4137 SOX3 Seb Lunke Added comment: Comment on mode of pathogenicity: Mouse model demonstrates that mechanism of disease is polyAlanine tract leading to a loss of function of the protein
Fetal anomalies v0.4137 SOX3 Seb Lunke Mode of pathogenicity for gene: SOX3 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Fetal anomalies v0.4129 SPEG Zornitza Stark reviewed gene: SPEG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Centronuclear myopathy 5, MIM# 615959; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.4098 TBX1 Zornitza Stark Mode of pathogenicity for gene: TBX1 was changed from to None
Fetal anomalies v0.4073 TFAP2B Zornitza Stark reviewed gene: TFAP2B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Char syndrome, MIM# 169100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.4071 TGFBR1 Zornitza Stark reviewed gene: TGFBR1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Loeys-Dietz syndrome 1, MIM# 609192; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.4069 TGFBR2 Zornitza Stark reviewed gene: TGFBR2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Loeys-Dietz syndrome 2 610168; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.4047 TP63 Zornitza Stark reviewed gene: TP63: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ADULT syndrome, OMIM #103285, Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, OMIM #604292, Hay-Wells syndrome, OMIM #106260, Limb-mammary syndrome, OMIM #603543, Orofacial cleft 8, OMIM #618149, Rapp-Hodgkin syndrome, OMIM #129400, Split-hand/foot malformation 4, OMIM #605289; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.4038 TRIM37 Zornitza Stark reviewed gene: TRIM37: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mulibrey nanism, OMIM #253250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.4032 TRIP12 Zornitza Stark reviewed gene: TRIP12: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mental retardation autosomal dominant 49, Clark-Baraitser Syndrome, MIM#617752; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.4004 VIPAS39 Zornitza Stark reviewed gene: VIPAS39: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Arthrogryposis, renal dysfunction, and cholestasis 2, OMIM #613404; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.4002 VPS13B Zornitza Stark reviewed gene: VPS13B: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Cohen syndrome (MIM# 216550); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.3986 ZNF711 Zornitza Stark reviewed gene: ZNF711: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mental retardation, X-linked 97, OMIM #300803; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v0.3977 WASHC5 Zornitza Stark reviewed gene: WASHC5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ritscher-Schinzel syndrome 1, MIM# 220210; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.3974 WAC Zornitza Stark reviewed gene: WAC: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Desanto-Shinawi syndrome, MIM# 616708; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.3967 UFC1 Zornitza Stark Phenotypes for gene: UFC1 were changed from Severe early-onset encephalopathy with progressive microcephaly to Neurodevelopmental disorder with spasticity and poor growth (MIM#618076)
Fetal anomalies v0.3965 UFC1 Zornitza Stark reviewed gene: UFC1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with spasticity and poor growth (MIM#618076); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.3962 UBE2A Zornitza Stark reviewed gene: UBE2A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mental retardation, X-linked syndromic, Nascimento-type (MIM#300860); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v0.3960 UBA5 Zornitza Stark reviewed gene: UBA5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Epileptic encephalopathy, early infantile, 44 (MIM#617132); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.3954 TIMM8A Zornitza Stark reviewed gene: TIMM8A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mohr-Tranebjaerg syndrome, MIM# 304700; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v0.3943 SYNGAP1 Zornitza Stark reviewed gene: SYNGAP1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual disability, autosomal dominant 5 (MIM # 612621); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.3928 SKIV2L Zornitza Stark reviewed gene: SKIV2L: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Trichohepatoenteric syndrome 2, MIM#614602; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.3908 PLOD3 Krithika Murali reviewed gene: PLOD3: Rating: GREEN; Mode of pathogenicity: None; Publications: 18834968, 30237576, 30463024, 31129566; Phenotypes: Lysyl hydroxylase 3 deficiency - MIM#612394, Stickler-syndrome like; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.3896 PYCR1 Zornitza Stark reviewed gene: PYCR1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cutis laxa, autosomal recessive, type IIB, MIM# 612940; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.3895 PTS Zornitza Stark reviewed gene: PTS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hyperphenylalaninemia, BH4-deficient, A, MIM# 261640; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.3891 PTHLH Zornitza Stark reviewed gene: PTHLH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Brachydactyly, type E2, MIM# 613382; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.3889 PTF1A Zornitza Stark reviewed gene: PTF1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 21749365, 10507728, 15543146, 19650412; Phenotypes: Pancreatic and cerebellar agenesis, MIM# 609069; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.3886 PTDSS1 Zornitza Stark reviewed gene: PTDSS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24241535, 29341480, 31403251; Phenotypes: Lenz-Majewski hyperostotic dwarfism MIM#151050; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.3884 PSPH Zornitza Stark reviewed gene: PSPH: Rating: GREEN; Mode of pathogenicity: None; Publications: 14673469, 25080166, 27604308, 26888760, 25152457; Phenotypes: Phosphoserine phosphatase deficiency , MIM#614023, Neu-Luxova syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.3881 POLR1D Zornitza Stark reviewed gene: POLR1D: Rating: GREEN; Mode of pathogenicity: None; Publications: 21131976, 24603435, 27448281, 25790162; Phenotypes: Treacher Collins syndrome 2, MIM# 613717; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.3879 PDGFRB Zornitza Stark reviewed gene: PDGFRB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Premature aging syndrome, Penttinen type, MIM# 601812; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.3877 STAR Zornitza Stark reviewed gene: STAR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Lipoid adrenal hyperplasia (MIM#201710); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.3877 STAR Daniel Flanagan reviewed gene: STAR: Rating: GREEN; Mode of pathogenicity: None; Publications: 8948562, 16968793; Phenotypes: Lipoid adrenal hyperplasia (MIM#201710); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.3869 STAR Belinda Chong reviewed gene: STAR: Rating: RED; Mode of pathogenicity: None; Publications: 7892608, 8948562, 9097960, 11061515, 11297612, 14764819, 16968793, 9326645; Phenotypes: Lipoid adrenal hyperplasia MIM#201710; Mode of inheritance: None
Fetal anomalies v0.3869 SRD5A2 Daniel Flanagan reviewed gene: SRD5A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 12843198, 11869378, 18350250, 1944596; Phenotypes: Pseudovaginal perineoscrotal hypospadias (MIM#264600); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.3864 PPM1D Zornitza Stark reviewed gene: PPM1D: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Jansen de Vries syndrome (MIM #617450); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.3856 SOX9 Daniel Flanagan reviewed gene: SOX9: Rating: GREEN; Mode of pathogenicity: None; Publications: 9002675; Phenotypes: Campomelic dysplasia with autosomal sex reversal (MIM#114290), Campomelic dysplasia (MIM#114290), Acampomelic campomelic dysplasia (MIM#114290); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.3843 SOX17 Daniel Flanagan reviewed gene: SOX17: Rating: RED; Mode of pathogenicity: None; Publications: 29650961, 31406341; Phenotypes: Vesicoureteral reflux 3 MIM#613674, Pulmonary arterial hypertension; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.3831 MPZ Zornitza Stark reviewed gene: MPZ: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Neuropathy; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Fetal anomalies v0.3829 SOX10 Zornitza Stark reviewed gene: SOX10: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: PCWH syndrome (MIM#609136), Waardenburg syndrome, type 2E, with or without neurologic involvement (MIM#611584), Waardenburg syndrome, type 4C (MIM#613266); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.3825 SOX10 Daniel Flanagan reviewed gene: SOX10: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: PCWH syndrome (MIM#609136), Waardenburg syndrome, type 2E, with or without neurologic involvement (MIM#611584), Waardenburg syndrome, type 4C (MIM#613266); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.3825 SNX14 Daniel Flanagan reviewed gene: SNX14: Rating: AMBER; Mode of pathogenicity: None; Publications: 25848753, 25439728; Phenotypes: Spinocerebellar ataxia, autosomal recessive 20 (MIM#616354); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.3823 MPV17 Zornitza Stark reviewed gene: MPV17: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), OMIM #256810; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.3799 THRB Zornitza Stark reviewed gene: THRB: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.3789 TAPT1 Zornitza Stark reviewed gene: TAPT1: Rating: AMBER; Mode of pathogenicity: None; Publications: 26365339; Phenotypes: Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type (MIM#616897); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.3783 TBL1X Zornitza Stark reviewed gene: TBL1X: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.3765 SLC26A7 Zornitza Stark reviewed gene: SLC26A7: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.3759 SLC26A4 Zornitza Stark reviewed gene: SLC26A4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.3742 NKX2-1 Zornitza Stark reviewed gene: NKX2-1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.3741 IYD Zornitza Stark reviewed gene: IYD: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.3740 IRS4 Zornitza Stark reviewed gene: IRS4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.3739 DUOXA2 Zornitza Stark reviewed gene: DUOXA2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.3738 DUOXA1 Zornitza Stark reviewed gene: DUOXA1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.3737 DUOX2 Zornitza Stark reviewed gene: DUOX2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.3736 DUOX1 Zornitza Stark reviewed gene: DUOX1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.3731 CDCA8 Zornitza Stark reviewed gene: CDCA8: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital hypothyroidism, thyroid dysgenesis, no OMIM #; Mode of inheritance: None
Fetal anomalies v0.3729 PRMT7 Chirag Patel reviewed gene: PRMT7: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 26437029, 27718516, 30513135; Phenotypes: Short stature, brachydactyly, intellectual developmental disability, and seizures, OMIM #617157; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.3729 TBC1D24 Ain Roesley reviewed gene: TBC1D24: Rating: ; Mode of pathogenicity: None; Publications: Polyhydramnios is often noted when a fetus has DOORS syndrome [James et al 2007]. A subsequent affected pregnancy in one family with DOORS syndrome was terminated due to an elevated nuchal translucency of 5.1 mm at 12 weeks' estimated gestational age; Phenotypes: Developmental and epileptic encephalopathy 16 MIM#615338, DOORS syndrome MIM#220500, Epilepsy, rolandic, with proxysmal exercise-induce dystonia and writer's cramp MIM#608105, Myoclonic epilepsy, infantile, familial MIM#605021; Mode of inheritance: None; Current diagnostic: yes
Fetal anomalies v0.3728 PKD2 Chirag Patel reviewed gene: PKD2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 26139440; Phenotypes: Polycystic kidney disease 2, OMIM #613095; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.3726 PHOX2B Chirag Patel reviewed gene: PHOX2B: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 14608649, 15657873, 15121777, 26063465; Phenotypes: Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease, OMIM #209880; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.3726 PRG4 Chirag Patel reviewed gene: PRG4: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 10545950, 29397575; Phenotypes: Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, OMIM #208250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.3726 PIEZO1 Chirag Patel reviewed gene: PIEZO1: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 26333996, 23479567, 23695678; Phenotypes: Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, OMIM #194380, Lymphatic malformation 6, OMIM #616843; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.3726 PLOD2 Chirag Patel reviewed gene: PLOD2: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 22689593, 12881513, 33664768, 33778323, 29178448; Phenotypes: Bruck syndrome 2 , OMIM #609220; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.3726 PLOD1 Chirag Patel reviewed gene: PLOD1: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 15666309, 20301635, 28757364; Phenotypes: Ehlers-Danlos syndrome, kyphoscoliotic type, 1, OMIM #225400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.3725 PHF6 Chirag Patel reviewed gene: PHF6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Borjeson-Forssman-Lehmann syndrome, OMIM # 301900; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fetal anomalies v0.3724 PEPD Chirag Patel reviewed gene: PEPD: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Prolidase deficiency, OMIM #170100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.3724 TBC1D23 Ain Roesley reviewed gene: TBC1D23: Rating: AMBER; Mode of pathogenicity: None; Publications: 28823707, 28823706; Phenotypes: Pontocerebellar hypoplasia, type 11, MIM# 617695; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.3724 PITX2 Chirag Patel reviewed gene: PITX2: Rating: GREEN; Mode of pathogenicity: None; Publications: [PubMed: 12015277; Phenotypes: Anterior segment dysgenesis 4, OMIM #137600, Axenfeld-Rieger syndrome, type 1, OMIM #180500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.3724 TAPT1 Ain Roesley reviewed gene: TAPT1: Rating: AMBER; Mode of pathogenicity: None; Publications: 26365339; Phenotypes: Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type (MIM#616897); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.3723 PKD2 Chirag Patel reviewed gene: PKD2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Polycystic kidney disease 2, OMIM #613095; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.3722 PKD1 Chirag Patel reviewed gene: PKD1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Polycystic kidney disease 1, OMIM #173900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.3722 SMARCB1 Chirag Patel reviewed gene: SMARCB1: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 22426308, 22726846, 23929686; Phenotypes: Coffin-Siris syndrome 3, OMIM #614608; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.3722 SUCLG1 Ain Roesley reviewed gene: SUCLG1: Rating: AMBER; Mode of pathogenicity: None; Publications: 33230783, 28358460; Phenotypes: Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) MIM#245400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.3722 TALDO1 Chirag Patel reviewed gene: TALDO1: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 25388407, 23315216, 29923087, 26238251, 11283793; Phenotypes: Transaldolase deficiency, OMIM #606003; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.3722 PLK4 Chirag Patel reviewed gene: PLK4: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 25344692, 25320347, 33756487, 27650967; Phenotypes: Microcephaly and chorioretinopathy, autosomal recessive, 2, OMIM #616171; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.3722 SUCLG1 Chirag Patel reviewed gene: SUCLG1: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 17668387, 19526370, 20693550, 30470562; Phenotypes: Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) , OMIM #245400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.3722 SRY Chirag Patel reviewed gene: SRY: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 1570829, 1734522, 9143916, 12764225; Phenotypes: 46XY sex reversal 1, OMIM #400044, 46XX sex reversal 1, OMIM #400045; Mode of inheritance: Other
Fetal anomalies v0.3721 TRPS1 Chirag Patel reviewed gene: TRPS1: Rating: RED; Mode of pathogenicity: None; Publications: PubMed: 10615131, 11950061, 11112658; Phenotypes: Trichorhinophalangeal syndrome, type I, OMIM #190350, Trichorhinophalangeal syndrome, type III, OMIM #190351; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.3721 TBCE Chirag Patel reviewed gene: TBCE: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 12389028, 27666369; Phenotypes: Hypoparathyroidism-retardation-dysmorphism syndrome, OMIM #241410, Kenny-Caffey syndrome, type 1, OMIM #244460, Encephalopathy, progressive, with amyotrophy and optic atrophy OMIM #617207; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.3721 PEX7 Chirag Patel reviewed gene: PEX7: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 11781871, 12325024,,; Phenotypes: Peroxisome biogenesis disorder 9B, OMIM# 614879, Rhizomelic chondrodysplasia punctata, type 1, OMIM# 215100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.3721 RUNX2 Ain Roesley reviewed gene: RUNX2: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301686; Phenotypes: Cleidocranial dysplasia MIM#119600, Cleidocranial dysplasia, forme fruste, with brachydactyly MIM#119600; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v0.3721 RTEL1 Ain Roesley reviewed gene: RTEL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23329068, 20301779, 29296694; Phenotypes: Dyskeratosis congenita, autosomal recessive 5 MIM#615190; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.3721 RRM2B Ain Roesley reviewed gene: RRM2B: Rating: RED; Mode of pathogenicity: None; Publications: 24741716; Phenotypes: Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) MIM#612075, Mitochondrial DNA depletion syndrome 8B (MNGIE type) MIM#612075; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.3721 RPS6KA3 Ain Roesley reviewed gene: RPS6KA3: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301520; Phenotypes: Coffin-Lowry syndrome MIM#303600, Intellectual developmental disorder, X-linked 19 MIM#300844; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes
Fetal anomalies v0.3721 ROR2 Ain Roesley reviewed gene: ROR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 10932186, 10932187, 10986040, 19461659, 20301418; Phenotypes: Brachydactyly, type B1 MIM#113000, Robinow syndrome, autosomal recessive MIM#268310; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.3721 RNASET2 Ain Roesley reviewed gene: RNASET2: Rating: AMBER; Mode of pathogenicity: None; Publications: 31349848, 19525954, 27091087, 29336640, 18545798, 15851732; Phenotypes: Leukoencephalopathy, cystic, without megalencephaly MIM#612951; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.3721 RNASEH2C Ain Roesley reviewed gene: RNASEH2C: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301648, 24183309, 23322642; Phenotypes: Aicardi-Goutieres syndrome 3 (MIM# 610329), AR; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.3709 RNASEH2B Ain Roesley reviewed gene: RNASEH2B: Rating: GREEN; Mode of pathogenicity: None; Publications: 16845400, 33307271, 29239743; Phenotypes: Aicardi-Goutieres syndrome 2, MIM# 610181; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.3709 RNASEH2A Ain Roesley reviewed gene: RNASEH2A: Rating: GREEN; Mode of pathogenicity: None; Publications: 15870678, 25604658, 23592335; Phenotypes: Aicardi-Goutieres syndrome 4 MIM#610333; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.3699 HECW2 Zornitza Stark Mode of pathogenicity for gene: HECW2 was changed from to Other
Fetal anomalies v0.3683 GRIN2A Zornitza Stark Mode of pathogenicity for gene: GRIN2A was changed from to Other
Fetal anomalies v0.3677 GRIK2 Zornitza Stark reviewed gene: GRIK2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with impaired language and ataxia and with or without seizures, MIM# 619580; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.3674 GRIA3 Zornitza Stark reviewed gene: GRIA3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder, X-linked, syndromic, Wu type (MIM#300699); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v0.3672 GMPPA Zornitza Stark reviewed gene: GMPPA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Alacrima, achalasia, and mental retardation syndrome (MIM# 615510); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.3656 GATAD2B Zornitza Stark reviewed gene: GATAD2B: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: GAND syndrome 615074; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.3636 FBXO11 Zornitza Stark reviewed gene: FBXO11: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, MIM# 618089; Mode of inheritance: None
Fetal anomalies v0.3631 ERCC6L2 Zornitza Stark reviewed gene: ERCC6L2: Rating: AMBER; Mode of pathogenicity: None; Publications: 24507776, 27185855; Phenotypes: Bone marrow failure syndrome 2, MIM# 615715; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.3627 ENPP1 Zornitza Stark reviewed gene: ENPP1: Rating: AMBER; Mode of pathogenicity: None; Publications: 19521093; Phenotypes: Arterial calcification, generalized, of infancy, 1, MIM3 208000, Hypophosphatemic rickets, autosomal recessive, 2, MIM# 613312; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.3625 EGR2 Zornitza Stark reviewed gene: EGR2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Charcot-Marie-Tooth disease, type 1D, MIM# 607678, Dejerine-Sottas disease, MIM# 145900, Hypomyelinating neuropathy, congenital, 1, MIM# 605253; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.3610 ST3GAL5 Zornitza Stark changed review comment from: Salt and pepper developmental regression syndrome, also known as Amish infantile epilepsy syndrome, is an autosomal recessive neurocutaneous disorder characterised by infantile onset of refractory and recurrent seizures associated with profoundly delayed psychomotor development and/or developmental regression as well as abnormal movements and visual loss. Affected individuals develop hypo- or hyperpigmented skin macules on the trunk, face, and extremities in early childhood. Although initially reported in the Amish (founder variant p.Arg288Ter), families from other ethnicities have also been reported.; to: Salt and pepper developmental regression syndrome, also known as Amish infantile epilepsy syndrome, is an autosomal recessive neurocutaneous disorder characterised by infantile onset of refractory and recurrent seizures associated with profoundly delayed psychomotor development and/or developmental regression as well as abnormal movements and visual loss. Affected individuals develop hypo- or hyperpigmented skin macules on the trunk, face, and extremities in early childhood. Although initially reported in the Amish (founder variant p.Arg288Ter), families from other ethnicities have also been reported.

Clinical presentation is typically post-natal.
Fetal anomalies v0.3588 MYH3 Zornitza Stark reviewed gene: MYH3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Arthrogryposis, distal, type 2A (Freeman-Sheldon), OMIM #193700, Arthrogryposis, distal, type 2B3 (Sheldon-Hall), OMIM #618436, Contractures, pterygia, and variable skeletal fusions syndrome 1A, OMIM #178110, Contractures, pterygia, and variable skeletal fusions syndrome 1B, OMIM #618469; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.3578 RORA Zornitza Stark Mode of pathogenicity for gene: RORA was changed from Other to None
Fetal anomalies v0.3577 RORA Zornitza Stark Mode of pathogenicity for gene: RORA was changed from to Other
Fetal anomalies v0.3570 RMND1 Zornitza Stark reviewed gene: RMND1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency 11, MIM# MIM#614922; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.3561 DUSP6 Belinda Chong reviewed gene: DUSP6: Rating: RED; Mode of pathogenicity: None; Publications: 23643382, 32389901; Phenotypes: Hypogonadotropic hypogonadism 19 with or without anosmia MIM615269; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.3544 DMP1 Belinda Chong reviewed gene: DMP1: Rating: RED; Mode of pathogenicity: None; Publications: 17033625, 17033621, 31843680; Phenotypes: Hypophosphatemic rickets, AR MIM#241520; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.3541 DLD Belinda Chong reviewed gene: DLD: Rating: RED; Mode of pathogenicity: None; Publications: 3769994, 8506365, 9934985, 17404228, 21558426, 21930696; Phenotypes: Dihydrolipoamide dehydrogenase deficiency MIM#246900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.3539 TBCK Zornitza Stark reviewed gene: TBCK: Rating: GREEN; Mode of pathogenicity: None; Publications: 27040692, 30103036, 27040691; Phenotypes: Hypotonia, infantile, with psychomotor retardation and characteristic facies 3, MIM# 616900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.3537 TBL1XR1 Zornitza Stark reviewed gene: TBL1XR1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Mental retardation, autosomal dominant 41, MIM# 616944, Pierpont syndrome, MIM# 602342; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.3535 TBX15 Zornitza Stark reviewed gene: TBX15: Rating: GREEN; Mode of pathogenicity: None; Publications: 19068278, 24039145; Phenotypes: Cousin syndrome, MIM# 260660; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.3532 TBX18 Zornitza Stark reviewed gene: TBX18: Rating: GREEN; Mode of pathogenicity: None; Publications: 26235987; Phenotypes: Congenital anomalies of kidney and urinary tract 2, MIM# 143400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.3529 TBX20 Zornitza Stark reviewed gene: TBX20: Rating: GREEN; Mode of pathogenicity: None; Publications: 17668378, 19762328, 33585493, 29089047; Phenotypes: Atrial septal defect 4, MIM# 611363; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.3526 TBX4 Zornitza Stark reviewed gene: TBX4: Rating: GREEN; Mode of pathogenicity: None; Publications: 23592887, 31151956, 31761294, 31965066; Phenotypes: Amelia, posterior, with pelvic and pulmonary hypoplasia syndrome, MIM# 601360, Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension, MIM# 147891; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.3523 TCF12 Zornitza Stark reviewed gene: TCF12: Rating: GREEN; Mode of pathogenicity: None; Publications: 23354436; Phenotypes: Craniosynostosis 3, MIM# 615314; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.3518 TCOF1 Zornitza Stark reviewed gene: TCOF1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Treacher Collins syndrome 1, MIM# 154500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.3516 TGDS Zornitza Stark reviewed gene: TGDS: Rating: GREEN; Mode of pathogenicity: None; Publications: 25480037; Phenotypes: Catel-Manzke syndrome, MIM# 616145; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.3514 TGFB2 Zornitza Stark reviewed gene: TGFB2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Loeys-Dietz syndrome 4, MIM# 614816; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.3512 TGFB3 Zornitza Stark reviewed gene: TGFB3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Loeys-Dietz syndrome 5, MIM# 615582; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.3510 THOC6 Zornitza Stark reviewed gene: THOC6: Rating: GREEN; Mode of pathogenicity: None; Publications: 23621916, 26739162, 27102954, 30238602, 30476144; Phenotypes: Beaulieu-Boycott-Innes syndrome, MIM# 613680; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.3507 THRA Zornitza Stark reviewed gene: THRA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypothyroidism, congenital, nongoitrous, 6, MIM# 614450; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.3505 TMCO1 Zornitza Stark changed review comment from: Multiple families reported. Although some have the same recurrent founder variants, sufficient number of families from different ethnicities and with different variants reported for Green rating.; to: Multiple families reported. Although some have the same recurrent founder variants, sufficient number of families from different ethnicities and with different variants reported for Green rating.

Skeletal abnormalities are pertinent to this panel.
Fetal anomalies v0.3505 TMCO1 Zornitza Stark reviewed gene: TMCO1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20018682, 23320496, 24194475, 30556256, 31102500; Phenotypes: Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome, MIM# 213980; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.3504 TPM3 Zornitza Stark reviewed gene: TPM3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Myopathy, congenital, with fiber-type disproportion, MIM# 255310; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.3502 TREX1 Zornitza Stark reviewed gene: TREX1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33527515; Phenotypes: Aicardi-Goutieres syndrome 1, dominant and recessive, MIM# 225750; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.3487 NAA15 Zornitza Stark reviewed gene: NAA15: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder, autosomal dominant 50, with behavioral abnormalities, MIM 617787; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.3478 STAT3 Zornitza Stark reviewed gene: STAT3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hyper-IgE recurrent infection syndrome - MIM#147060, Autoimmune disease, multisystem, infantile-onset, 1 - MIM#615952; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.3449 TNXB Zornitza Stark reviewed gene: TNXB: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Vesicoureteral reflux 8, MIM#615963; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.3430 TANGO2 Zornitza Stark reviewed gene: TANGO2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration (MIM#616878); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.3428 ZFYVE26 Zornitza Stark reviewed gene: ZFYVE26: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic paraplegia 15, autosomal recessive MIM#270700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.3426 SYP Zornitza Stark reviewed gene: SYP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.3420 ZDHHC9 Zornitza Stark reviewed gene: ZDHHC9: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Mental retardation, X-linked syndromic, Raymond type, MIM# 300799; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v0.3417 STXBP1 Zornitza Stark reviewed gene: STXBP1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental and epileptic encephalopathy 4 (MIM#612164); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.3400 DHH Belinda Chong reviewed gene: DHH: Rating: ; Mode of pathogenicity: None; Publications: 31018998, 29471294, 11017805; Phenotypes: 46XY gonadal dysgenesis with minifascicular neuropathy MIM#607080; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.3400 DEPDC5 Belinda Chong reviewed gene: DEPDC5: Rating: RED; Mode of pathogenicity: None; Publications: 23542697, 23542701, 24814846, 24585383, 26505888, 27173016, 31444548; Phenotypes: Epilepsy, familial focal, with variable foci 1 MIM#604364; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v0.3400 DDHD2 Belinda Chong reviewed gene: DDHD2: Rating: RED; Mode of pathogenicity: None; Publications: 23486545, 24482476, 23176823, 31302745; Phenotypes: Spastic paraplegia 54, autosomal recessive, MIM# 615033, MONDO:0014018; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.3400 DDHD1 Belinda Chong reviewed gene: DDHD1: Rating: RED; Mode of pathogenicity: None; Publications: 23176821; Phenotypes: Spastic paraplegia 28, autosomal recessive, 609340, MONDO:0012256; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.3400 DDC Belinda Chong reviewed gene: DDC: Rating: RED; Mode of pathogenicity: None; Publications: 20505134, 33528536, 30799092, 33996177; Phenotypes: Aromatic L-amino acid decarboxylase deficiency MIM#608643; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.3400 DDB2 Belinda Chong reviewed gene: DDB2: Rating: RED; Mode of pathogenicity: None; Publications: 33544716, 32457468, 32239545, 32228487; Phenotypes: Xeroderma pigmentosum, group E, DDB-negative subtype MIM#278740; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.3400 FUZ Ain Roesley reviewed gene: FUZ: Rating: RED; Mode of pathogenicity: None; Publications: 21840926; Phenotypes: {Neural tube defects, susceptibility to} MIM#182940; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v0.3400 DBT Belinda Chong reviewed gene: DBT: Rating: RED; Mode of pathogenicity: None; Publications: 9239422, 10915611, 20570198; Phenotypes: Maple syrup urine disease, type II (MIM#248600); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.3400 DARS2 Belinda Chong reviewed gene: DARS2: Rating: RED; Mode of pathogenicity: None; Publications: 17384640, 15002045, 16788019, 30352563; Phenotypes: Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, MIM# 611105; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.3400 TTC19 Daniel Flanagan reviewed gene: TTC19: Rating: RED; Mode of pathogenicity: None; Publications: 23532514, 24368687; Phenotypes: Mitochondrial complex III deficiency, nuclear type 2 (MIM#615157); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.3400 CYP19A1 Belinda Chong reviewed gene: CYP19A1: Rating: RED; Mode of pathogenicity: None; Publications: 17164303, 25264451; Phenotypes: Aromatase deficiency (MIM#613546), AR, Aromatase excess syndrome (MIM#139300), AD; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.3400 TNXB Daniel Flanagan reviewed gene: TNXB: Rating: RED; Mode of pathogenicity: None; Publications: 19921645, 28306229, 28306225, 23620400; Phenotypes: Vesicoureteral reflux 8 (MIM#615963), Ehlers-Danlos syndrome, classic-like, 1 (MIM#606408); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.3400 FTSJ1 Ain Roesley reviewed gene: FTSJ1: Rating: RED; Mode of pathogenicity: None; Publications: 15342698, 18081026, 15162322, 26310293; Phenotypes: 15342698, 18081026, 15162322, 26310293; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Fetal anomalies v0.3398 MYO9A Zornitza Stark reviewed gene: MYO9A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Myasthenic syndrome, congenital, 24, presynaptic, MIM# 618198; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.3397 FLRT3 Ain Roesley reviewed gene: FLRT3: Rating: RED; Mode of pathogenicity: None; Publications: 23643382, 31200363; Phenotypes: Hypogonadotropic hypogonadism 21 with anosmia (MIM# 615271); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v0.3396 TMEM126B Daniel Flanagan reviewed gene: TMEM126B: Rating: AMBER; Mode of pathogenicity: None; Publications: 27374774, 27374773; Phenotypes: Mitochondrial complex I deficiency, nuclear type 29 (MIM#618250); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.3396 FLAD1 Ain Roesley reviewed gene: FLAD1: Rating: RED; Mode of pathogenicity: None; Publications: Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency MIM#255100; Phenotypes: Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency MIM#255100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.3396 TK2 Daniel Flanagan reviewed gene: TK2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 2 (myopathic type) (MIM#609560); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.3396 FGF20 Ain Roesley reviewed gene: FGF20: Rating: AMBER; Mode of pathogenicity: None; Publications: 22698282; Phenotypes: Renal hypodysplasia/aplasia 2, MIM#615721; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.3396 FGF17 Ain Roesley reviewed gene: FGF17: Rating: RED; Mode of pathogenicity: None; Publications: 31200363, 31748124, 23643382; Phenotypes: Hypogonadotropic hypogonadism 20 with or without anosmia MIM#615270; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v0.3396 TEK Daniel Flanagan reviewed gene: TEK: Rating: RED; Mode of pathogenicity: None; Publications: 19888299; Phenotypes: Glaucoma 3, primary congenital, E (MIM#617272), Venous malformations, multiple cutaneous and mucosal (MIM#600195); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.3396 TBXAS1 Daniel Flanagan reviewed gene: TBXAS1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ghosal hematodiaphyseal syndrome (MIM#231095); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.3396 TANGO2 Daniel Flanagan reviewed gene: TANGO2: Rating: RED; Mode of pathogenicity: None; Publications: 26805781, 26805782, 30245509; Phenotypes: Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration (MIM#616878); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.3396 ZFYVE26 Ain Roesley reviewed gene: ZFYVE26: Rating: RED; Mode of pathogenicity: None; Publications: 34057829; Phenotypes: Spastic paraplegia 15, autosomal recessive MIM#270700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.3396 SYP Daniel Flanagan reviewed gene: SYP: Rating: RED; Mode of pathogenicity: None; Publications: 19377476; Phenotypes: Intellectual developmental disorder, X-linked 96 (MIM#300802); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v0.3396 CYC1 Belinda Chong reviewed gene: CYC1: Rating: RED; Mode of pathogenicity: None; Publications: 23910460; Phenotypes: Mitochondrial complex III deficiency, nuclear type 6, MIM# 615453; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.3396 SURF1 Daniel Flanagan reviewed gene: SURF1: Rating: RED; Mode of pathogenicity: None; Publications: 23829769; Phenotypes: Charcot-Marie-Tooth disease, type 4K (MIM#616684), Mitochondrial complex IV deficiency, nuclear type 1 (MIM#220110); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.3396 ZDHHC9 Ain Roesley reviewed gene: ZDHHC9: Rating: RED; Mode of pathogenicity: None; Publications: Mental retardation, X-linked syndromic, Raymond typeMIM# 300799; Phenotypes: Mental retardation, X-linked syndromic, Raymond typeMIM# 300799; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Fetal anomalies v0.3394 MYH7 Zornitza Stark Mode of pathogenicity for gene: MYH7 was changed from to Other
Fetal anomalies v0.3382 STXBP1 Daniel Flanagan reviewed gene: STXBP1: Rating: RED; Mode of pathogenicity: None; Publications: 31855252, 18469812; Phenotypes: Developmental and epileptic encephalopathy 4 (MIM#612164); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.3380 XPC Ain Roesley reviewed gene: XPC: Rating: RED; Mode of pathogenicity: None; Publications: 10447254; Phenotypes: Xeroderma pigmentosum, group C, MIM# 278720, MONDO:0010211; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.3377 WDR45 Ain Roesley reviewed gene: WDR45: Rating: RED; Mode of pathogenicity: None; Publications: 30842224, 23176820; Phenotypes: Neurodegeneration with brain iron accumulation 5, MIM# 300894, Rett syndrome, Rett-like phenotypes; Mode of inheritance: None; Current diagnostic: yes
Fetal anomalies v0.3372 SPTBN5 Daniel Flanagan reviewed gene: SPTBN5: Rating: RED; Mode of pathogenicity: None; Publications: 32732226, 28007035; Phenotypes: Sacral agenesis, congenital anomalies; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.3372 SPTBN2 Daniel Flanagan reviewed gene: SPTBN2: Rating: RED; Mode of pathogenicity: None; Publications: 23236289, 23838597, 22781464, 31617442, 31066025; Phenotypes: Spinocerebellar ataxia 5 (MIM#600224), Spinocerebellar ataxia, autosomal recessive 14 (MIM#615386); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.3372 SMARCAL1 Daniel Flanagan reviewed gene: SMARCAL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15523612, 20301550, 20301550, 17089404, 20036229; Phenotypes: Schimke immunoosseous dysplasia (MIM#242900); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.3372 SP110 Daniel Flanagan reviewed gene: SP110: Rating: RED; Mode of pathogenicity: None; Publications: 20301448, 31721003; Phenotypes: Hepatic venoocclusive disease with immunodeficiency (MIM#235550); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.3372 SLC6A8 Daniel Flanagan reviewed gene: SLC6A8: Rating: AMBER; Mode of pathogenicity: None; Publications: 11898126, 16738945, 16086185; Phenotypes: Cerebral creatine deficiency syndrome 1 (MIM#300352); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v0.3372 SLC52A3 Daniel Flanagan reviewed gene: SLC52A3: Rating: RED; Mode of pathogenicity: None; Publications: 29053833, 29193829; Phenotypes: Brown-Vialetto-Van Laere syndrome 1 (MIM#211530); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.3370 MACF1 Zornitza Stark Mode of pathogenicity for gene: MACF1 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Fetal anomalies v0.3364 LRBA Zornitza Stark reviewed gene: LRBA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency, common variable, 8, with autoimmunity MIM#614700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.3333 SPRED2 Zornitza Stark reviewed gene: SPRED2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Noonan syndrome 14, MIM# 619745; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.3305 KCNH1 Zornitza Stark reviewed gene: KCNH1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Zimmermann-Laband syndrome 1, OMIM:135500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.3288 CTNS Zornitza Stark reviewed gene: CTNS: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cystinosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.3279 CTNS Belinda Chong reviewed gene: CTNS: Rating: RED; Mode of pathogenicity: None; Publications: 32564281, 20301574, 9537412, 31068690; Phenotypes: Cystinosis, late-onset juvenile or adolescent nephropathic MIM#219900, Cystinosis, nephropathic MIM#219800, Cystinosis, ocular nonnephropathic MIM#219750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.3279 SLC52A2 Daniel Flanagan reviewed gene: SLC52A2: Rating: RED; Mode of pathogenicity: None; Publications: 10797435, 22740598, 22864630; Phenotypes: Brown-Vialetto-Van Laere syndrome 2 (MIM#614707); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.3279 SLC4A4 Daniel Flanagan reviewed gene: SLC4A4: Rating: RED; Mode of pathogenicity: None; Publications: 10545938, 11274232; Phenotypes: Renal tubular acidosis, proximal, with ocular abnormalities (MIM#604278); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.3279 SLC39A13 Daniel Flanagan reviewed gene: SLC39A13: Rating: RED; Mode of pathogenicity: None; Publications: 18985159, 18513683, 28306229, 28306225; Phenotypes: Ehlers-Danlos syndrome, spondylodysplastic type, 3 (MIM#612350); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.3279 SLC25A26 Daniel Flanagan reviewed gene: SLC25A26: Rating: AMBER; Mode of pathogenicity: None; Publications: 26522469; Phenotypes: Combined oxidative phosphorylation deficiency 28 (MIM#616794); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.3275 SIX1 Zornitza Stark reviewed gene: SIX1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Branchiootic syndrome 3, MIM# 608389; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.3262 SLC19A3 Daniel Flanagan reviewed gene: SLC19A3: Rating: RED; Mode of pathogenicity: None; Publications: 23423671, 24878502, 19387023, 20065143; Phenotypes: Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2) (MIM#607483); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.3254 SIX1 Daniel Flanagan reviewed gene: SIX1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal dominant 23 (MIM# 605192), Branchiootic syndrome 3 (MIM# 608389); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.3254 SIM1 Daniel Flanagan reviewed gene: SIM1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.3250 SIK1 Daniel Flanagan reviewed gene: SIK1: Rating: RED; Mode of pathogenicity: None; Publications: 25839329; Phenotypes: Developmental and epileptic encephalopathy 30 (MIM#616341); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.3247 SDHA Daniel Flanagan reviewed gene: SDHA: Rating: AMBER; Mode of pathogenicity: None; Publications: 20551992, 22972948, 12794685; Phenotypes: Cardiomyopathy, dilated, 1GG (MIM#613642), Mitochondrial complex II deficiency, nuclear type 1 (MIM#252011); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.3245 GRIN2D Zornitza Stark Mode of pathogenicity for gene: GRIN2D was changed from to Other
Fetal anomalies v0.3241 GRHL2 Zornitza Stark reviewed gene: GRHL2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Ectodermal dysplasia/short stature syndrome MIM#616029; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.3235 CPS1 Zornitza Stark reviewed gene: CPS1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Carbamoylphosphate synthetase I deficiency MIM#237300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.3235 CPS1 Belinda Chong reviewed gene: CPS1: Rating: RED; Mode of pathogenicity: None; Publications: 8486760, 17310273, 21120950; Phenotypes: Carbamoylphosphate synthetase I deficiency MIM#237300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.3217 GALNT2 Zornitza Stark changed review comment from: Seven individuals from four families reported with bi-allelic LOF variants and global developmental delay, intellectual disability with language deficit, autistic features, behavioural abnormalities, epilepsy, chronic insomnia, white matter changes on brain MRI, dysmorphic features, decreased stature, and decreased high density lipoprotein cholesterol levels. Rodent (mouse and rat) models of GALNT2-CDG recapitulated much of the human phenotype, including poor growth and neurodevelopmental abnormalities.
Sources: Literature; to: Seven individuals from four families reported with bi-allelic LOF variants and global developmental delay, intellectual disability with language deficit, autistic features, behavioural abnormalities, epilepsy, chronic insomnia, white matter changes on brain MRI, dysmorphic features, decreased stature, and decreased high density lipoprotein cholesterol levels. Rodent (mouse and rat) models of GALNT2-CDG recapitulated much of the human phenotype, including poor growth and neurodevelopmental abnormalities.

Microcephaly and poor growth but age of onset of these features is uncertain.

Sources: Literature
Fetal anomalies v0.3183 SEPT9 Zornitza Stark reviewed gene: SEPT9: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.3151 SCN8A Ain Roesley reviewed gene: SCN8A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental and epileptic encephalopathy 13, MIM#614558, dominant and recessive, Myoclonus, familial, 2, MIM# 618364, paroxysmal kinesigenic dyskinesias, Cognitive impairment with or without cerebellar ataxia, MIM# 614306; Mode of inheritance: None; Current diagnostic: yes
Fetal anomalies v0.3151 RFWD3 Ain Roesley reviewed gene: RFWD3: Rating: RED; Mode of pathogenicity: None; Publications: 28691929; Phenotypes: Fanconi anemia, complementation group W, MIM# 617784; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.3151 RAB39B Ain Roesley reviewed gene: RAB39B: Rating: RED; Mode of pathogenicity: None; Publications: 34761259, 20159109, 25434005, 27066548, 26399558, 27943471, 28851564, 28851564, 29152164, 33880059, 27448726, 32670181; Phenotypes: Intellectual developmental disorder, X-linked 72 MIM#300271, Waisman syndrome MIM#311510; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Fetal anomalies v0.3151 PTCHD1 Ain Roesley reviewed gene: PTCHD1: Rating: RED; Mode of pathogenicity: None; Publications: 33856728, 25131214; Phenotypes: intellectual disability MIM#300830; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Fetal anomalies v0.3151 PSMB8 Ain Roesley reviewed gene: PSMB8: Rating: RED; Mode of pathogenicity: None; Publications: 21129723, 21881205, 21852578, 21953331; Phenotypes: Proteasome-associated autoinflammatory syndrome 1, MIM# 256040, MONDO:0054698; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.3151 PRSS12 Ain Roesley reviewed gene: PRSS12: Rating: RED; Mode of pathogenicity: None; Publications: 12459588, 22090715, 23344636; Phenotypes: Intellectual disability, PRSS12 related MIM#249500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.3151 PRPS1 Ain Roesley reviewed gene: PRPS1: Rating: AMBER; Mode of pathogenicity: None; Publications: 32781272, 24961627; Phenotypes: Arts syndrome MIM#301835; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Fetal anomalies v0.3151 PPT1 Ain Roesley reviewed gene: PPT1: Rating: RED; Mode of pathogenicity: None; Publications: 7637805, 9425237, 9664077; Phenotypes: Ceroid lipofuscinosis, neuronal, 1, MIM# 256730, MONDO:0009744; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.3151 PPA2 Ain Roesley reviewed gene: PPA2: Rating: RED; Mode of pathogenicity: None; Publications: 27523598, 34400813; Phenotypes: Sudden cardiac failure, alcohol-induced, 617223, Sudden cardiac failure, infantile, 617222; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.3151 PLP1 Ain Roesley reviewed gene: PLP1: Rating: RED; Mode of pathogenicity: None; Publications: 20301361; Phenotypes: Pelizaeus-Merzbacher disease MIM#312080, Spastic paraplegia 2, X-linked MIM#312920; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Fetal anomalies v0.3151 LDB3 Ain Roesley reviewed gene: LDB3: Rating: RED; Mode of pathogenicity: None; Publications: 26419279, 16427346, 14660611, 14662268, 27546599, 25911362; Phenotypes: Cardiomyopathy, dilated, 1C, with or without LVNC MIM#601493, Cardiomyopathy, hypertrophic, 24 MIM#601493, Left ventricular noncompaction 3 MIM#601493, Myopathy, myofibrillar, 4 MIM#609452; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v0.3151 IL17RD Ain Roesley reviewed gene: IL17RD: Rating: RED; Mode of pathogenicity: None; Publications: 23643382, 32389901; Phenotypes: Hypogonadotropic hypogonadism 18 with or without anosmia, MIM# 615267; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.3151 IGSF1 Ain Roesley reviewed gene: IGSF1: Rating: AMBER; Mode of pathogenicity: None; Publications: 26840047; Phenotypes: Hypothyroidism, central, and testicular enlargement MIM#300888; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes
Fetal anomalies v0.3140 ROBO3 Belinda Chong reviewed gene: ROBO3: Rating: GREEN; Mode of pathogenicity: None; Publications: 16525029, 15105459; Phenotypes: Gaze palsy, familial horizontal, with progressive scoliosis, 1 MIM#607313; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.3138 RMND1 Belinda Chong reviewed gene: RMND1: Rating: RED; Mode of pathogenicity: None; Publications: 23022099, 25604853, 27843092; Phenotypes: Combined oxidative phosphorylation deficiency 11 MIM#614922; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.3133 PXDN Zornitza Stark Phenotypes for gene: PXDN were changed from CONGENITAL CATARACT, CORNEAL OPACITY, AND DEVELOPMENTAL GLAUCOMA to Anterior segment dysgenesis 7, with sclerocornea, MIM# 269400
Fetal anomalies v0.3111 SPINT2 Zornitza Stark reviewed gene: SPINT2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Diarrhoea 3, secretory sodium, congenital, syndromic - MIM#270420, congenital secretory sodium diarrhea 3 - MONDO#0010036; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.3106 SPINT2 Krithika Murali reviewed gene: SPINT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33029133, 29575628, 28716867, 24142340, 30445423, 19185281, 20009592, 24142340; Phenotypes: Diarrhea 3, secretory sodium, congenital, syndromic - MIM#270420, congenital secretory sodium diarrhea 3 - MONDO#0010036; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.3094 PPP3CA Zornitza Stark reviewed gene: PPP3CA: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development MIM#618265; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.3089 POLG2 Zornitza Stark reviewed gene: POLG2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, MIM# 610131, Mitochondrial DNA depletion syndrome 16 , MIM# 618528; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.3085 WDR26 Zornitza Stark reviewed gene: WDR26: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.3059 MTOR Zornitza Stark Mode of pathogenicity for gene: MTOR was changed from to Other
Fetal anomalies v0.3031 PYROXD1 Belinda Chong reviewed gene: PYROXD1: Rating: RED; Mode of pathogenicity: None; Publications: 30345904, 30515627, 27745833; Phenotypes: Myopathy, myofibrillar, 8 (MIM#617258); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.3031 PYGM Belinda Chong reviewed gene: PYGM: Rating: RED; Mode of pathogenicity: None; Publications: 1701414, 8316268, 17915571, 17994553, 21880526; Phenotypes: McArdle disease, MIM# 232600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.3031 PTPN14 Belinda Chong reviewed gene: PTPN14: Rating: GREEN; Mode of pathogenicity: None; Publications: 20826270, https://doi.org/10.1016/j.mgene.2017.07.006; Phenotypes: Choanal atresia and lymphedema MIM#613611; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.3031 PRKAG2 Belinda Chong reviewed gene: PRKAG2: Rating: GREEN; Mode of pathogenicity: None; Publications: 15877279, 17667862, 32646569; Phenotypes: Glycogen storage disease of heart, lethal congenital MIM#261740; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v0.3031 PPP3CA Belinda Chong reviewed gene: PPP3CA: Rating: AMBER; Mode of pathogenicity: None; Publications: 29432562, 28942967, 28942967; Phenotypes: Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development MIM#618265, Developmental and epileptic encephalopathy 91 617711; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v0.3031 POLR1A Belinda Chong reviewed gene: POLR1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 25913037, 28051070; Phenotypes: Acrofacial dysostosis, Cincinnati type, (MIM#616462); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v0.3031 POLG2 Belinda Chong reviewed gene: POLG2: Rating: AMBER; Mode of pathogenicity: None; Publications: 16685652, 21555342, 27592148, 31778857; Phenotypes: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, MIM# 610131, Mitochondrial DNA depletion syndrome 16 , MIM# 618528; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.3031 PLCB4 Belinda Chong reviewed gene: PLCB4: Rating: GREEN; Mode of pathogenicity: None; Publications: 22560091, 23315542, 33131036, 32201334, 28328130, 27007857, 23913798; Phenotypes: Auriculocondylar syndrome 2, MIM# 614669; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.3028 PLCB1 Zornitza Stark reviewed gene: PLCB1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Epileptic encephalopathy, early infantile, 12 (MIM#613722); Mode of inheritance: None
Fetal anomalies v0.3025 PLAG1 Zornitza Stark reviewed gene: PLAG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28796236, 29913240, 33291420, 32546215; Phenotypes: Silver-Russell syndrome, MIM#618907; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.3025 PLAA Zornitza Stark Phenotypes for gene: PLAA were changed from Lethal Infantile Epileptic Encephalopathy to Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies, MIM# 617527
Fetal anomalies v0.3022 PLAA Zornitza Stark changed review comment from: NDMSBA is an autosomal recessive neurodevelopmental disorder characterized by infantile onset of progressive microcephaly and spasticity and severe global developmental delay resulting in profound mental retardation and severely impaired or absent motor function. More variable features include seizures and optic atrophy. Brain imaging may show myelinating abnormalities and white matter lesions consistent with a leukoencephalopathy, as well as structural anomalies, including thin corpus callosum, gyral abnormalities, and cerebral or cerebellar atrophy.

At least 5 families reported.; to: NDMSBA is an autosomal recessive neurodevelopmental disorder characterized by infantile onset of progressive microcephaly and spasticity and severe global developmental delay resulting in profound mental retardation and severely impaired or absent motor function. More variable features include seizures and optic atrophy. Brain imaging may show myelinating abnormalities and white matter lesions consistent with a leukoencephalopathy, as well as structural anomalies, including thin corpus callosum, gyral abnormalities, and cerebral or cerebellar atrophy.

At least 5 families reported. Mouse model.
Fetal anomalies v0.3022 PLAA Zornitza Stark reviewed gene: PLAA: Rating: ; Mode of pathogenicity: None; Publications: 28007986, 28413018, 31322726; Phenotypes: Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies, MIM# 617527; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.2993 PGAP1 Zornitza Stark Phenotypes for gene: PGAP1 were changed from Intellectual disability, encephalopathy, impaired GPI-anchor maturation to Neurodevelopmental disorder with dysmorphic features, spasticity, and brain abnormalities, MIM# 615802
Fetal anomalies v0.2990 PGAP1 Zornitza Stark reviewed gene: PGAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24482476, 24784135, 25823418, 25804403, 26050939; Phenotypes: Neurodevelopmental disorder with dysmorphic features, spasticity, and brain abnormalities, MIM# 615802; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.2984 PDSS1 Zornitza Stark reviewed gene: PDSS1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Coenzyme Q10 deficiency, primary, 2 MIM#614651; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.2978 PAICS Zornitza Stark reviewed gene: PAICS: Rating: RED; Mode of pathogenicity: None; Publications: 31600779; Phenotypes: Polyhydramnios, multiple congenital abnormalities; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.2951 PDSS2 Ain Roesley reviewed gene: PDSS2: Rating: RED; Mode of pathogenicity: None; Publications: 29032433, 25349199, 17186472, 21723727, 10972372; Phenotypes: Coenzyme Q10 deficiency, primary, 3 MIM#614652; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.2951 PDHX Ain Roesley reviewed gene: PDHX: Rating: AMBER; Mode of pathogenicity: None; Publications: 20002125 34873726 33092611 30981218 25087164 22766002; Phenotypes: Lacticacidemia due to PDX1 deficiency MIM#245349; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.2951 G6PD Krithika Murali reviewed gene: G6PD: Rating: RED; Mode of pathogenicity: None; Publications: 1316704, 26279483, 18177777, 17825683, 1127504, 7472841; Phenotypes: Haemolytic anaemia, G6PD deficient (300908); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v0.2951 NT5C3A Ain Roesley reviewed gene: NT5C3A: Rating: RED; Mode of pathogenicity: None; Publications: 11369620, 12714505, 30951028, 25153905; Phenotypes: Anaemia, haemolytic, due to UMPH1 deficiency, MIM# 266120; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.2951 NDUFV1 Ain Roesley reviewed gene: NDUFV1: Rating: ; Mode of pathogenicity: None; Publications: 34807224; Phenotypes: Mitochondrial complex I deficiency, nuclear type 4 MIM#618225; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.2950 MYBPC1 Alison Yeung reviewed gene: MYBPC1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Arthrogryposis, distal, type 1B, MIM# 614335, Lethal congenital contracture syndrome 4, MIM# 614915; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.2950 NDUFS8 Ain Roesley reviewed gene: NDUFS8: Rating: RED; Mode of pathogenicity: None; Publications: 23430795, 9837812, 15159508, 22499348, 20818383, 20819849; Phenotypes: Mitochondrial complex I deficiency, nuclear type 2 MIM#618222; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.2949 MUSK Alison Yeung reviewed gene: MUSK: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fetal akinesia deformation sequence 1, MIM# 208150; Mode of inheritance: None
Fetal anomalies v0.2948 MTOR Alison Yeung reviewed gene: MTOR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Smith-Kingsmore syndrome, MIM#616638; Mode of inheritance: None
Fetal anomalies v0.2948 NDUFS7 Ain Roesley reviewed gene: NDUFS7: Rating: RED; Mode of pathogenicity: None; Publications: 17604671, 17275378, 10360771; Phenotypes: Mitochondrial complex I deficiency, nuclear type 3 MIM#618224; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.2948 NDUFS7 Ain Roesley reviewed gene: NDUFS7: Rating: RED; Mode of pathogenicity: None; Publications: 34797029; Phenotypes: Mitochondrial complex I deficiency, nuclear type 3 MIM#618224; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.2948 NDUFA1 Ain Roesley reviewed gene: NDUFA1: Rating: RED; Mode of pathogenicity: None; Publications: 29506883, 19185523, 17262856, 21596602; Phenotypes: Mitochondrial complex I deficiency, nuclear type 12 MIM#301020; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Fetal anomalies v0.2948 MYO5A Ain Roesley reviewed gene: MYO5A: Rating: RED; Mode of pathogenicity: None; Publications: 32275080, 22711375, 25283056; Phenotypes: Griscelli syndrome, type 1 MIM#214450; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.2948 LTBP2 Ain Roesley reviewed gene: LTBP2: Rating: RED; Mode of pathogenicity: None; Publications: 19656777, 19361779, 20617341, 32165823, 30380740, 30565850; Phenotypes: Glaucoma 3, primary congenital, D 613086, Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, MIM# 251750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.2947 MTO1 Alison Yeung reviewed gene: MTO1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency 10, MIM# 61702; Mode of inheritance: None
Fetal anomalies v0.2946 MSL3 Alison Yeung reviewed gene: MSL3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Basilicata-Akhtar syndrome, MIM# 301032; Mode of inheritance: None
Fetal anomalies v0.2946 LRPPRC Ain Roesley reviewed gene: LRPPRC: Rating: AMBER; Mode of pathogenicity: None; Publications: 32972427, 26510951, 21266382; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 5, (French-Canadian) MIM#220111; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.2945 MPLKIP Alison Yeung reviewed gene: MPLKIP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Trichothiodystrophy 4, nonphotosensitive, MIM# 234050; Mode of inheritance: None
Fetal anomalies v0.2943 MPDU1 Alison Yeung reviewed gene: MPDU1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of glycosylation, type If, MIM# 609180; Mode of inheritance: None
Fetal anomalies v0.2942 MOCS1 Alison Yeung reviewed gene: MOCS1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Molybdenum cofactor deficiency A, MIM# 252150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.2941 MNX1 Alison Yeung reviewed gene: MNX1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Currarino syndrome, MIM# 176450; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.2940 MMP21 Alison Yeung reviewed gene: MMP21: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.2939 MLYCD Alison Yeung reviewed gene: MLYCD: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.2939 LMOD1 Ain Roesley reviewed gene: LMOD1: Rating: AMBER; Mode of pathogenicity: None; Publications: 28292896; Phenotypes: Megacystis-microcolon-intestinal hypoperistalsis syndrome 3, MIM# 619362; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.2939 LEMD3 Ain Roesley reviewed gene: LEMD3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Buschke-Ollendorff syndrome MIM#166700, Osteopoikilosis with or without melorheostosis MIM#166700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v0.2939 ITPR1 Ain Roesley reviewed gene: ITPR1: Rating: RED; Mode of pathogenicity: None; Publications: 27108797, 31340402, 30242502, 29169895; Phenotypes: Spinocerebellar ataxia 15 MIM#606658, Spinocerebellar ataxia 29, congenital nonprogressive MIM#117360, Gillespie syndrome, MIM# 206700; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.2938 STAT5B Zornitza Stark reviewed gene: STAT5B: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Growth hormone insensitivity with immune dysregulation 1, autosomal recessive, MIM# 245590; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.2928 SP7 Zornitza Stark reviewed gene: SP7: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Osteogenesis imperfecta, type XII, MIM# 613849; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.2910 SNAP25 Zornitza Stark reviewed gene: SNAP25: Rating: AMBER; Mode of pathogenicity: None; Publications: 25381298; Phenotypes: Myasthenic syndrome, congenital, 18, MIM# 616330; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.2892 UROS Krithika Murali gene: UROS was added
gene: UROS was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: UROS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UROS were set to 34187847; 34828434; 15065102
Phenotypes for gene: UROS were set to Porphyria, congenital erythropoietic - MIM#263700; hydrops fetalis; multiple congenital anomalies
Review for gene: UROS was set to GREEN
Added comment: Biallelic variants associated with congenital erytropoietic porphyria (CEP).

PMID 34187847 Khalouaoui A et al 2021 report one infant with CEP secondary to homozygous UROS variants. Prenatal ultrasound at 25 weeks of gestation revealed an increased nuchal translucency and myocardial hypertrophy.

PMID: 34828434 Arnaud et al 2021 - report one fetus miscarried in the 2nd trimester with 22 weeks ultrasound showing hyperechogenic small intestine with short femurs. Subsequent pregnancy MTOP after antenatal USS showed hygroma coli, ascites, short femurs, double outlet right ventricle. Genomic sequencing on stored fetal DNA samples confirmed homozygous UROS p.Cys73Arg variants in both fetuses.

PMID 15065102 Lazebnik et al 2004 reported the prenatal findings of two siblings with CEP secondary to homozygous pathogenic C73R variants. 1st child - USS at 17.5 weeks gestation showed increased nuchal thickness (9.7mm) with mild ascites, pericardial effusion, and skin oedema which persisted on subsequent scans. 2nd child - 16 week USS showed increased nuchal thickness (8.7mm) with scalp oedema, ascites, pericardial effusion, skin oedema and hepatomegaly.

Other cases with antenatal features, particularly non-immune hydrops, secondary to suspected CEP reported but not confirmed molecularly.
Sources: Literature
Fetal anomalies v0.2892 LAMB2 Krithika Murali gene: LAMB2 was added
gene: LAMB2 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: LAMB2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LAMB2 were set to 16450351
Phenotypes for gene: LAMB2 were set to Pierson syndrome-MIM#609049; Nephrotic syndrome, type 5, with or without ocular abnormalities-MIM#614199
Review for gene: LAMB2 was set to AMBER
Added comment: Biallelic variants associated with Pierson syndrome. Phenotypic features include congenital nephrotic syndrome, ocular anomalies including microcoria. Most affected individuals die early from renal disease with survivors tending to have ID/visual loss.

Prenatal features reported in 1 consanguineous Turkish family with 4 pregnancies affected by Pierson syndrome. Antenatal ultrasound features noted include:
- 2/4 homogenous hyperechogenicity of the kidneys similar to bone tissue
- 2/4 enlargement of fetal kidneys
- 2/4 bilateral pyelectasis
- 1/4 oligohydramnios --> anhydramnios
- 1/4 hydrops
- 1/4 ancencephaly

All 4 fetuses had ultrasound anomalies. Anencephaly seen in the 4th pregnancy noted at 11 weeks resulting in MTOP. Homozygosity for LAMB2 variant confirmed. PM showed that kidneys were appropriate for gestational age. I could not find another case report of anencephaly with Pierson syndrome, this may be an incidental finding.
Sources: Literature
Fetal anomalies v0.2876 SHANK1 Zornitza Stark reviewed gene: SHANK1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, SHANK1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.2865 SETD1A Zornitza Stark changed review comment from: OMIM has assigned a second phenotype in relation to the syndromic ID cohort reported in PMID 32346159. All variants were predicted to disrupt or delete the SET catalytic domain, and LOF is the established mechanism.

In addition, there are 4 families reported with a predominantly seizure phenotype without ID, PMID 31197650. All the variants are missense and mechanism of pathogenicity is not clearly established, hence it is difficult to know whether these are two distinct conditions or part of a spectrum of severity for SETD1A-related disorders.; to: OMIM has assigned a second phenotype in relation to the syndromic ID cohort reported in PMID 32346159. All variants were predicted to disrupt or delete the SET catalytic domain, and LOF is the established mechanism.

In addition, there are 4 families reported with a predominantly seizure phenotype without ID, PMID 31197650. All the variants are missense and mechanism of pathogenicity is not clearly established, hence it is difficult to know whether these are two distinct conditions or part of a spectrum of severity for SETD1A-related disorders.

Presentation of both disorders is typically post-natal.
Fetal anomalies v0.2862 SECISBP2 Zornitza Stark reviewed gene: SECISBP2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Thyroid hormone metabolism, abnormal, MIM# 609698; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.2857 SCN3A Zornitza Stark Mode of pathogenicity for gene: SCN3A was changed from to Other
Fetal anomalies v0.2843 MGP Alison Yeung reviewed gene: MGP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.2842 MTM1 Alison Yeung reviewed gene: MTM1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.2842 MFSD2A Alison Yeung Phenotypes for gene: MFSD2A were changed from Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities, 616486 to Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities, MIM# 616486
Fetal anomalies v0.2840 MFRP Alison Yeung reviewed gene: MFRP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.2839 IQCB1 Alison Yeung reviewed gene: IQCB1: Rating: RED; Mode of pathogenicity: None; Publications: 15723066, 21220633, 20881296, 21901789, 33512896, 33535056, 29219953; Phenotypes: Senior-Loken syndrome 5, MIM# 609254, MONDO:0012225; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.2838 IARS Alison Yeung reviewed gene: IARS: Rating: GREEN; Mode of pathogenicity: None; Publications: 27426735, 27891590; Phenotypes: Growth retardation, impaired intellectual development, hypotonia, and hepatopathy, MIM#617093; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.2830 NOVA2 Zornitza Stark Phenotypes for gene: NOVA2 were changed from Intellectual disability with ataxia/spasticity to Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities, MIM# 618859
Fetal anomalies v0.2828 NOVA2 Zornitza Stark Mode of pathogenicity for gene: NOVA2 was changed from to Other
Fetal anomalies v0.2825 KIF26B Zornitza Stark gene: KIF26B was added
gene: KIF26B was added to Fetal anomalies. Sources: Expert Review
Mode of inheritance for gene: KIF26B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KIF26B were set to 30151950
Phenotypes for gene: KIF26B were set to Progressive microcephaly, pontocerebellar hypoplasia, and arthrogryposis
Review for gene: KIF26B was set to RED
Added comment: 1 report only of infant with progressive microcephaly, pontocerebellar hypoplasia, and arthrogryposis secondary to the involvement of anterior horn cells and ventral (motor) nerves. Whole exome sequencing on the trio identified a de novo KIF26B missense variant (p.Gly546Ser). Functional analysis of the variant protein in cultured cells revealed a reduction in the KIF26B protein's ability to promote cell adhesion, a defect that potentially contributes to its pathogenicity.
Sources: Expert Review
Fetal anomalies v0.2823 ACP5 Alison Yeung reviewed gene: ACP5: Rating: GREEN; Mode of pathogenicity: None; Publications: 26854080, 26951490, 21217755, 26789720, 2363422, 21217752; Phenotypes: Spondyloenchondrodysplasia with immune dysregulation, OMIM# 607944; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.2823 ACAN Alison Yeung reviewed gene: ACAN: Rating: GREEN; Mode of pathogenicity: None; Publications: 24762113, 27870580, 19110214, 30124491, 28331218, 20137779; Phenotypes: Spondyloepimetaphyseal dysplasia, aggrecan type, OMIM# 612813, Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, OMIM# 165800; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.2815 TSPAN7 Zornitza Stark reviewed gene: TSPAN7: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder, X-linked 58, MIM# 300210; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v0.2797 MATN3 Zornitza Stark reviewed gene: MATN3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spondyloepimetaphyseal dysplasia, Borochowitz-Cormier-Daire type, MIM# 608728; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.2791 MAP2K2 Zornitza Stark Mode of pathogenicity for gene: MAP2K2 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Fetal anomalies v0.2787 MAP2K1 Zornitza Stark Mode of pathogenicity for gene: MAP2K1 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Fetal anomalies v0.2780 LZTR1 Zornitza Stark Mode of pathogenicity for gene: LZTR1 was changed from to Other
Fetal anomalies v0.2730 GLMN Zornitza Stark reviewed gene: GLMN: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.2728 SHMT2 Krithika Murali gene: SHMT2 was added
gene: SHMT2 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: SHMT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SHMT2 were set to 33015733
Phenotypes for gene: SHMT2 were set to Polymicrogyria; corpus callosum anomalies; Microcephaly; Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities - #619121
Review for gene: SHMT2 was set to GREEN
Added comment: Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities particularly thin corpus callosum and polymicrogyria (NEDCASB) associated with biallelic SHMT2 variants. Antenatal detection of microcephaly reported.

--
Detailed PanelApp review Oct 2020 - no new evidence to add

García‑Cazorla et al. (2020 - PMID: 33015733) report 5 individuals (from 4 families) with a novel brain and heart developmental syndrome caused by biallelic SHMT2 pathogenic variants.

All affected subjects presented similar phenotype incl. microcephaly at birth (5/5 with OFC < -2 SD though in 2/5 cases N OFC was observed later), DD and ID (1/5 mild-moderate, 1/5 moderate, 3/5 severe), motor dysfunction in the form of spastic (5/5) paraparesis, ataxia/dysmetria (3/4), intention tremor (in 3/?) and/or peripheral neuropathy (2 sibs). They exhibited corpus callosum hypoplasia (5/5) and perisylvian microgyria-like pattern (4/5). Cardiac problems were reported in all, with hypertrophic cardiomyopathy in 4/5 (from 3 families) and atrial-SD in the 5th individual (1/5). Common dysmorphic features incl. long palpebral/fissures, eversion of lateral third of lower eylids, arched eyebrows, long eyelashes, thin upper lip, short Vth finger, fetal pads, mild 2-3 toe syndactyly, proximally placed thumbs.

Biallelic variants were identified following exome sequencing in all (other investigations not mentioned). Identified variants were in all cases missense SNVs or in-frame del, which together with evidence from population databases and mouse model might suggest a hypomorphic effect of variants and intolerance/embryonic lethality for homozygous LoF ones.

SHMT2 encodes the mitohondrial form of serine hydroxymethyltransferase. The enzyme transfers one-carbon units from serine to tetrahydrofolate (THF) and generates glycine and 5,10,methylene-THF.

Mitochondrial defect was suggested by presence of ragged red fibers in myocardial biopsy of one patient. Quadriceps and myocardial biopsies of the same individual were overall suggestive of myopathic changes.

While plasma metabolites were within N range and SHMT2 protein levels not significantly altered in patient fibroblasts, the authors provide evidence for impaired enzymatic function eg. presence of the SHMT2 substrate (THF) in patient but not control (mitochondria-enriched) fibroblasts , decrease in glycine/serine ratios, impared folate metabolism. Patient fibroblasts displayed impaired oxidative capacity (reduced ATP levels in a medium without glucose, diminished oxygen consumption rates). Mitochondrial membrane potential and ROS levels were also suggestive of redox malfunction.

Shmt2 ko in mice was previously shown to be embryonically lethal attributed to severe mitochondrial respiration defects, although there was no observed brain metabolic defect.

The authors performed Shmt2 knockdown in motoneurons in Drosophila, demonstrating neuromuscular junction (# of satellite boutons) and motility defects (climbing distance/velocity).
Sources: Literature
Fetal anomalies v0.2728 ASTN1 Krithika Murali reviewed gene: ASTN1: Rating: AMBER; Mode of pathogenicity: None; Publications: 27431290, 26539891, 29706646, 11861479; Phenotypes: Polymicrogyria, hypoplastic corpus callosum; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.2712 NAGLU Zornitza Stark reviewed gene: NAGLU: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mucopolysaccharidosis type IIIB (Sanfilippo B), MIM# 252920; Mode of inheritance: None
Fetal anomalies v0.2712 HYAL1 Ain Roesley reviewed gene: HYAL1: Rating: RED; Mode of pathogenicity: None; Publications: Mucopolysaccharidosis type IX, MIM# 601492, MONDO:0011093; Phenotypes: 10339581, 18344557, 21559944; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.2712 HSD17B10 Ain Roesley reviewed gene: HSD17B10: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: HSD10 mitochondrial disease, MIM# 300438; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes
Fetal anomalies v0.2712 HPGD Ain Roesley reviewed gene: HPGD: Rating: RED; Mode of pathogenicity: None; Publications: 20406614, 32282352, 31878983, 29282707; Phenotypes: Hypertrophic osteoarthropathy, primary, autosomal recessive 1 MIM#259100, Cranioosteoarthropathy MIM#259100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.2712 GLMN Ain Roesley reviewed gene: GLMN: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Glomuvenous malformations MIM#138000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v0.2712 GK Ain Roesley reviewed gene: GK: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Glycerol kinase deficiency MIM#307030; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Fetal anomalies v0.2712 GDI1 Ain Roesley reviewed gene: GDI1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder, X-linked 41 MIM#300849; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes
Fetal anomalies v0.2712 GAMT Ain Roesley reviewed gene: GAMT: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cerebral creatine deficiency syndrome 2 MIM#612736; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.2710 NMNAT2 Ain Roesley reviewed gene: NMNAT2: Rating: AMBER; Mode of pathogenicity: None; Publications: 31136762, 31132363, 25271157, 20126265; Phenotypes: Hydrops fetalis and multiple fetal anomalies, polyneuropathy, erythromelalgia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.2710 NKX6-2 Ain Roesley reviewed gene: NKX6-2: Rating: RED; Mode of pathogenicity: None; Publications: 28575651, 15601927, 32246862, 32004679; Phenotypes: Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, MIM# 617560, MONDO:0033043; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.2710 NECTIN1 Ain Roesley reviewed gene: NECTIN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25913853, 10932188; Phenotypes: Cleft lip/palate-ectodermal dysplasia syndrome MIM#225060, Zlotogora-Ogur syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.2684 PAX8 Zornitza Stark reviewed gene: PAX8: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia, MIM# 218700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.2677 PAPSS2 Zornitza Stark reviewed gene: PAPSS2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Brachyolmia 4 with mild epiphyseal and metaphyseal changes MIM#612847; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.2665 NDUFB11 Ain Roesley reviewed gene: NDUFB11: Rating: GREEN; Mode of pathogenicity: None; Publications: 30423443, 25772934, 28050600); Phenotypes: Mitochondrial complex I deficiency, nuclear type 30 MIM#301021; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes
Fetal anomalies v0.2665 NAGLU Ain Roesley reviewed gene: NAGLU: Rating: AMBER; Mode of pathogenicity: None; Publications: 8650226; Phenotypes: Mucopolysaccharidosis type IIIB (Sanfilippo B), MIM# 252920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.2658 FN1 Zornitza Stark reviewed gene: FN1: Rating: AMBER; Mode of pathogenicity: None; Publications: 33605604; Phenotypes: Spondylometaphyseal dysplasia, corner fracture type (MIM#184255); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.2650 FKBP8 Zornitza Stark reviewed gene: FKBP8: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Spina bifida, MONDO:0008449; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.2633 MYPN Zornitza Stark reviewed gene: MYPN: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Nemaline myopathy 11, autosomal recessive MIM#617336; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.2619 MED13L Zornitza Stark reviewed gene: MED13L: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Impaired intellectual development and distinctive facial features with or without cardiac defects MIM#616789; Mode of inheritance: None
Fetal anomalies v0.2597 MAP3K20 Zornitza Stark reviewed gene: MAP3K20: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Centronuclear myopathy 6 with fiber-type disproportion MIM#617760, Split-foot malformation with mesoaxial polydactyly MIM#616890; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.2594 SHROOM3 Zornitza Stark reviewed gene: SHROOM3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.2571 EXPH5 Zornitza Stark reviewed gene: EXPH5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.2554 SERPINH1 Zornitza Stark reviewed gene: SERPINH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20188343; Phenotypes: Osteogenesis imperfecta, type X, MIM# 613848; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.2551 POLR3A Zornitza Stark reviewed gene: POLR3A: Rating: GREEN; Mode of pathogenicity: None; Publications: 30323018; Phenotypes: Wiedemann-Rautenstrauch syndrome, MIM# 264090; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.2542 TRMT10C Zornitza Stark reviewed gene: TRMT10C: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency 30, MIM# 616974; Mode of inheritance: None
Fetal anomalies v0.2539 TRPM7 Zornitza Stark reviewed gene: TRPM7: Rating: RED; Mode of pathogenicity: None; Publications: 31423533; Phenotypes: Arrhythmia, stillbirth; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.2536 NUAK2 Zornitza Stark reviewed gene: NUAK2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.2522 VEGFC Zornitza Stark reviewed gene: VEGFC: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Lymphatic malformation 4, MIM# 615907; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.2484 ZNF423 Zornitza Stark Mode of pathogenicity for gene: ZNF423 was changed from to Other
Fetal anomalies v0.2462 WDR73 Zornitza Stark reviewed gene: WDR73: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Galloway-Mowat syndrome 1 MIM#251300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.2446 USP18 Zornitza Stark reviewed gene: USP18: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pseudo-TORCH syndrome 2 MIM#617397; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.2443 UQCRQ Zornitza Stark reviewed gene: UQCRQ: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex III deficiency, nuclear type 4, MIM #615159; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.2440 UQCRB Zornitza Stark reviewed gene: UQCRB: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex III deficiency, nuclear type 3, MIM #615158; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.2427 TUFM Zornitza Stark reviewed gene: TUFM: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency 4, OMIM #610678; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.2414 TSEN2 Zornitza Stark reviewed gene: TSEN2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pontocerebellar hypoplasia type 2B (MIM#612389); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.2397 TRAPPC11 Zornitza Stark reviewed gene: TRAPPC11: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 18 MIM# 615356; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.2375 FOXL2 Belinda Chong reviewed gene: FOXL2: Rating: RED; Mode of pathogenicity: None; Publications: 31077882, 18642388, 17089161; Phenotypes: Blepharophimosis, epicanthus inversus, and ptosis, type 1 with premature ovarian insufficiency (POI) and type II without POI (MIM# 110100); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v0.2370 THOC2 Zornitza Stark reviewed gene: THOC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29851191; Phenotypes: Mental retardation, X-linked 12/35 MIM#300957; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v0.2366 FN1 Belinda Chong reviewed gene: FN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29100092, 33605604; Phenotypes: Spondylometaphyseal dysplasia, corner fracture type (MIM#184255), Glomerulopathy with fibronectin deposits 2 (MIM#601894); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v0.2366 FMN2 Belinda Chong reviewed gene: FMN2: Rating: RED; Mode of pathogenicity: None; Publications: 25480035, 32162566, 24161494; Phenotypes: Intellectual developmental disorder, autosomal recessive 47 MIM#616193; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.2366 FKBP8 Belinda Chong reviewed gene: FKBP8: Rating: RED; Mode of pathogenicity: None; Publications: 32969478; Phenotypes: spina bifida HP:0002414; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.2366 FKBP10 Belinda Chong reviewed gene: FKBP10: Rating: GREEN; Mode of pathogenicity: None; Publications: 20696291, 20362275, 20839288, 21567934, 21567934, 23712425, 22718341; Phenotypes: Bruck syndrome 1 MIM#259450, Osteogenesis imperfecta, type XI MIM#610968; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.2366 FGF9 Belinda Chong reviewed gene: FGF9: Rating: GREEN; Mode of pathogenicity: None; Publications: 33140402, 28730625, 19589401, 33174625, 19219044, 28730625; Phenotypes: Multiple synostoses syndrome 3, OMIM # 612961, Craniosynostosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v0.2366 FGF9 Belinda Chong reviewed gene: FGF9: Rating: GREEN; Mode of pathogenicity: None; Publications: 19589401, 28730625, 19219044; Phenotypes: Multiple synostoses syndrome 3 MIM#612961; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v0.2366 FAM46A Belinda Chong reviewed gene: FAM46A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Osteogenesis imperfecta, type XVIII MIM#617952; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.2366 GATA5 Krithika Murali edited their review of gene: GATA5: Added comment: OMIM gene disease association for multiple congenital heart defects both AR and AD inheritance

--

AR inheritance - x2 patients with congenital heart disease

PMID 28180938 Hempel et al 2017 - x1 DCDA twin female born at 28+6 weeks after PROM. Ascites, non-immune hydrops fetalis and VSD diagnosed prenatally at 20 weeks. Postnatally diagnosed with ASD, PDA, mild HCM and gallstones. Hydrops likely secondary to congenital heart disease. Also diagnosed with clitoromegaly with transient elevation in 17-hydroxyprogrogesterone till 10 weeks of age and normal adrenal androgen levels. 46 XX confirmed on karyotype. Proband compound het for paternally inherited GATA 5 c.56G > C, p.Ser19Trp variant and maternally inherited c.605C > T, p.Arg202Gln. Carrier arents and twin sister with c.605C > T, p.Arg202Gln unaffected. Arg202Gln absent from population database, p.Ser19Trp - 241 hets in gnomad not seen in homozygous form.

Supportive zebrafish models for GATA5 LoF. Previous mouse models suggest that GATA5 plays a role during mammalian embryogenesis, including heart developmen and progesterone receptor expression.

PMID: 27066509 Kassab et al 2015

Lebanese patient cohort with high rates of consangunity. A total of 185 patients with different forms of congenital heart disease (CHD)were screened for GATA4, GATA5, GATA6 variants + 150 healthy individuals. 2 patients with homozygous GATA5 varianst identified. One patient wtih aortic stenosis, coarctation of the aorta, VSD, PDA with homozygous p.T67P variants - in silicos benign, gnomad 4975 hets and 402 homozygotes. Another patient with double outlet right ventricle / ASD / pulmonary stenosis and homozygous p.Y142H – present in gnomad 39 hets, 0 homozygotes, unaffected consanguineous carrier parents.

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Multiple studies reporting AD inheritance for bicuspid aortic valve, congenital heart disease, DCM, AF - evidence conflicting

PMID 34461831 Ma et al 2021 BMC Cardiovascular Disorders - prospective recruitment of 130 unrelated patients with bicuspid aortic valve with complex congenital heart disease being one of the exclusion criteria. 2 heterozygous GATA5 variants identified present in population database. No segregation data.

PMID: 30229885 Alonso-Montes et al 2018, European Journal of Clinical Investigations - North of Spain cohort. 122 unrelated patients with bicuspid and 154 unaffected patients had GATA4, GATA5 and GATA6 sequencing. Missense p.Arg202Gln in GATA5 identified, absent from gnomad, in-silicos probably damaging, no segregation data.

Zhang et al 2015 PMID 25543888 - DCM cohort heterozygous GATA5 c.719G>A p.G240D identified in a family. Authors report co-segregation with DCM in multiple family members with associated VSD in 2 individuals, functional analyses showed diminished transcriptional activity. In-silicos predict possibily damaging. Variant absent from gnomad but in a region of low exome coverage

Shan et al 2014 PMID 25515806 - analysis of GATA5 gene promoter in 343 patients with VSD and 348 controls. Two novel variants reported in affected individuals but also present in unaffected parents.

PMID 24796370 Bonachea et al 2014 - Cohort of 78 bicuspid aortic patients (50 with isolated BAV and 28 with associated aortic coarctation) had GATA5 sanger sequencing analysis. x2 variants identified. p.Gln3Arg variant present in 447 hets in gnomad – inherited from unaffected mother, p.Leu233Pro – present in 359 hets – apparently de novo

PMID: 23289003 Wei et al 2013 Int Journal Medical Science - cohort of 130 unrelated patients with TOF and 200 unrelated controls. GATA5 c.559C>G p.R187G variant identified in affected individual – although variant absent from gnomad alternative aa change at same position present in gnomad including truncating frameshift variants. GATA5 c.620A>G p.H207R – absent from gnomad. Authors report co-segregation of both variants with TOF in multiple family members, some with additional congenital heart defects.

Wei et al Pediatric Cardiology 2013 PMID 22961344 - GATA5 sequenced in 120 unrelated patients with VSD and 200 controls. Heterozygous GATA5 variant p.L199V identified in a patient with VSD. Author reports co-segregation in multiple affected family members. Variant absent from gnomad with X1 synonymous het variant only at same position; Changed rating: AMBER; Changed publications: 28180938, 27066509, 34461831, 30229885, 28285006, 25543888, 25515806, 24796370, 23295592, 23289003, 22961344
Fetal anomalies v0.2364 TECPR2 Zornitza Stark changed review comment from: SPG49 is an autosomal recessive complicated form of spastic paraplegia. PMID 23176824 reported 4 Jewish Bukharian individuals homozygous for same founder variant and delayed psychomotor development, intellectual disability, and onset of spastic paraplegia in the first decade. Affected individuals also had dysmorphic features, thin corpus callosum on brain imaging, and episodes of central apnea, some of which were fatal. Three additional patients from unrelated non-Bukharian families reported in PMID 26542466, harboring two novel variants (c.1319delT, c.C566T) in this gene. In addition to intellectual disability and evolving spasticity, autonomic-sensory neuropathy accompanied by chronic respiratory disease and paroxysmal autonomic events were prominent.

Included due to mild CC abnormalities.; to: SPG49 is an autosomal recessive complicated form of spastic paraplegia. PMID 23176824 reported 4 Jewish Bukharian individuals homozygous for same founder variant and delayed psychomotor development, intellectual disability, and onset of spastic paraplegia in the first decade. Affected individuals also had dysmorphic features, thin corpus callosum on brain imaging, and episodes of central apnea, some of which were fatal. Three additional patients from unrelated non-Bukharian families reported in PMID 26542466, harboring two novel variants (c.1319delT, c.C566T) in this gene. In addition to intellectual disability and evolving spasticity, autonomic-sensory neuropathy accompanied by chronic respiratory disease and paroxysmal autonomic events were prominent.

Included due to mild CC abnormalities, though clinical presentation is predominantly post-natal.
Fetal anomalies v0.2364 TECPR2 Zornitza Stark changed review comment from: SPG49 is an autosomal recessive complicated form of spastic paraplegia. PMID 23176824 reported 4 Jewish Bukharian individuals homozygous for same founder variant and delayed psychomotor development, intellectual disability, and onset of spastic paraplegia in the first decade. Affected individuals also had dysmorphic features, thin corpus callosum on brain imaging, and episodes of central apnea, some of which were fatal. Three additional patients from unrelated non-Bukharian families reported in PMID 26542466, harboring two novel variants (c.1319delT, c.C566T) in this gene. In addition to intellectual disability and evolving spasticity, autonomic-sensory neuropathy accompanied by chronic respiratory disease and paroxysmal autonomic events were prominent; to: SPG49 is an autosomal recessive complicated form of spastic paraplegia. PMID 23176824 reported 4 Jewish Bukharian individuals homozygous for same founder variant and delayed psychomotor development, intellectual disability, and onset of spastic paraplegia in the first decade. Affected individuals also had dysmorphic features, thin corpus callosum on brain imaging, and episodes of central apnea, some of which were fatal. Three additional patients from unrelated non-Bukharian families reported in PMID 26542466, harboring two novel variants (c.1319delT, c.C566T) in this gene. In addition to intellectual disability and evolving spasticity, autonomic-sensory neuropathy accompanied by chronic respiratory disease and paroxysmal autonomic events were prominent.

Included due to mild CC abnormalities.
Fetal anomalies v0.2352 MYPN Ain Roesley reviewed gene: MYPN: Rating: RED; Mode of pathogenicity: None; Publications: 28017374, 28220527, 31133047; Phenotypes: Nemaline myopathy 11, autosomal recessive MIM#617336 AR, cardiomyopathy MIM#615248 AD; Mode of inheritance: None; Current diagnostic: yes
Fetal anomalies v0.2352 MYOD1 Ain Roesley reviewed gene: MYOD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26733463, 30403323, 31260566; Phenotypes: Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies MIM#618975; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.2352 MYO18B Ain Roesley reviewed gene: MYO18B: Rating: GREEN; Mode of pathogenicity: None; Publications: 25748484, 27858739, 32637634, 32184166, 27879346, 33179433; Phenotypes: Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism MIM#616549; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.2352 MYLK Ain Roesley reviewed gene: MYLK: Rating: AMBER; Mode of pathogenicity: None; Publications: 28602422; Phenotypes: Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 MIM#249210; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.2352 MYL9 Ain Roesley reviewed gene: MYL9: Rating: GREEN; Mode of pathogenicity: None; Publications: 32621347, 33264186, 29453416, 33031641; Phenotypes: Megacystis-microcolon-intestinal hypoperistalsis syndrome, MIM#619365; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.2352 MYLK Ain Roesley reviewed gene: MYLK: Rating: GREEN; Mode of pathogenicity: None; Publications: 32621347, 33264186, 29453416, 33031641; Phenotypes: Megacystis-microcolon-intestinal hypoperistalsis syndrome, MIM#619365; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.2352 MYL9 Ain Roesley reviewed gene: MYL9: Rating: GREEN; Mode of pathogenicity: None; Publications: 29453416, 33031641, 33264186; Phenotypes: Megacystis-microcolon-intestinal hypoperistalsis syndrome, MIM#619365; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.2352 MSTO1 Ain Roesley reviewed gene: MSTO1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28554942, 28544275, 31604776, 31463572, 31130378, 30684668, 29339779; Phenotypes: Myopathy, mitochondrial, and ataxia, MIM# 617675; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.2352 MED13L Ain Roesley reviewed gene: MED13L: Rating: AMBER; Mode of pathogenicity: None; Publications: 33930262, 29959045, 32646507; Phenotypes: Impaired intellectual development and distinctive facial features with or without cardiac defects MIM#616789; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v0.2349 TACO1 Zornitza Stark reviewed gene: TACO1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex IV deficiency, OMIM #220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.2349 MECR Ain Roesley reviewed gene: MECR: Rating: RED; Mode of pathogenicity: None; Publications: 27817865, 33401012, 31137067, 31070877; Phenotypes: Childhood-onset dystonia with optic atrophy and basal ganglia abnormalities is an autosomal recessive neurologic disorder characterized by onset of involuntary movements in the first decade of life. Optic atrophy develops around the same time or slightly later. Severity is variable, and some patients lose independent ambulation. Brain imaging shows abnormalities in the basal ganglia. Cognition appears to be unaffected. 7 unrelated families reported.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.2343 MECOM Ain Roesley reviewed gene: MECOM: Rating: GREEN; Mode of pathogenicity: None; Publications: 29146883, 29519864, 26581901; Phenotypes: Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 MIM#616738; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v0.2334 EEF1A2 Zornitza Stark Mode of pathogenicity for gene: EEF1A2 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Fetal anomalies v0.2322 MDH2 Ain Roesley reviewed gene: MDH2: Rating: RED; Mode of pathogenicity: None; Publications: 27989324, 34766628; Phenotypes: Developmental and epileptic encephalopathy 51 MIM#617339; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.2320 FOXH1 Krithika Murali edited their review of gene: FOXH1: Added comment: No OMIM gene disease association. Overall, evidence for this gene and its association with congenital heart disease is conflicting.

Roessler et al 2008 PMID 18538293
Pilot consortium study of 375 unrelated individuals prospectively ascertained with cardiovascular malformations. Patients not seen at NIH and parents/siblings not consented. Therefore only samples from proband collected. Also screened 300-500 patients with holoprosencephaly and 125 unrelated controls. Over 60 heterozygous FOXH1 variants reported in patients with congenital heart disease or holoprosencephaly. The majority of reported variants were of questionable pathogenicity as they were present in gnomad, had variants present in gnomad with alternative amino acid changes at the same position, had limited evidence of effect on FOXH1 functional activity or were synonymous variants. Furthermore, no variant segregation data available.

De Luca et al 2009 PMID 19933292
FOXH1 (Pro21Ser) missense variant identified. Not present in gnomad but in area of low coverage, alternative aa change reported in the same location in x1 het. Identified in proband with TGA and x2 other unaffected family members. Proband who was also heterozogous for an amino acid substitution (Gly17Cys) in the ZIC3 gene

Wei et al 2020 Clinical Genetics PMID 32003456
Exome sequencing performed in 605 patients with sporadic conotruncal defects and 300 controls in patients of Chinese descent with ages ranging from 6 days to 12 years old, majority <2 years old. 14 gene panel used. Identified 7 FOXH1 missense variants in 10 unrelated patients with congenital heart disease. All reported variants associated with reduced protein expression of FOXH1 protein on Western blot to varying degrees. No segregation data provided.
• FOXH1 c.104C>G p.P35R identified in a 9 month old with double outlet right ventricle. Absent from gnomad but is in an area of low exome coverage. Variant with alternative amino acid change at same position (FOXH1 c.104C>T p.P35L) previously identified in a patient with congenital heart disease (Roessler et al 2008)
• X2 patients - FOXH1 c.205T>C p.Phe69Leu. Also present in gnomad – x1 het non-Finnish European. X1 patient with alternative amino acid change at same position also identified (FOXH1 c.206T>C p.Phe69Ser) – absent from gnomad.
• X2 patients with FOXH1 c.209T>C p.Phe70Ser - absent from gnomad
• X2 patients with FOXH1 c.232A>G p.Lys78Glu – x2 hets gnomad (European non-Finnish, South Asian)
• X1 patient with FOXH1 c.277A>G p.Lys93Glu – x1 het gnomad (European Finnish)
• X1 patients FOXH1 c.277A>G p.Glu165Gln – absent from gnomad, benign in silicos

PMID 12094232, PMID 16304598 - Previous mouse models have demonstrated a role for Foxh1 in heart morphogenesis.; Changed rating: AMBER; Changed publications: 18538293, 19933292, 32003456, 12094232, 16304598; Changed phenotypes: Congenital heart disease
Fetal anomalies v0.2316 MBOAT7 Ain Roesley reviewed gene: MBOAT7: Rating: AMBER; Mode of pathogenicity: None; Publications: 33335874, 32645526, 32744787, 31852446, 31282596, 30701556; Phenotypes: intellectual disability MIM#617188; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v0.2313 DOCK7 Zornitza Stark reviewed gene: DOCK7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.2310 DNM1L Zornitza Stark Mode of pathogenicity for gene: DNM1L was changed from to Other
Fetal anomalies v0.2307 MAT1A Ain Roesley reviewed gene: MAT1A: Rating: RED; Mode of pathogenicity: None; Publications: 27604308, 7560086; Phenotypes: Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency MIM#250850, Methionine adenosyltransferase deficiency, autosomal recessive MIM#250850, Disorders of the metabolism of sulphur amino acids; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.2307 MAP3K7 Ain Roesley reviewed gene: MAP3K7: Rating: GREEN; Mode of pathogenicity: None; Publications: 27426734, 27426733; Phenotypes: Cardiospondylocarpofacial syndrome MIM#157800 AD, Frontometaphyseal dysplasia 2 MIM#617137 AD; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v0.2307 MAP3K20 Ain Roesley reviewed gene: MAP3K20: Rating: GREEN; Mode of pathogenicity: None; Publications: 27816943, 26755636; Phenotypes: Centronuclear myopathy 6 with fiber-type disproportion MIM#617760, Split-foot malformation with mesoaxial polydactyly MIM#616890; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.2251 HRAS Zornitza Stark Mode of pathogenicity for gene: HRAS was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Fetal anomalies v0.2238 SCUBE3 Chirag Patel reviewed gene: SCUBE3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33308444; Phenotypes: Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies, OMIM # 619184; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.2237 SCYL1 Chirag Patel reviewed gene: SCYL1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.2236 SHANK2 Chirag Patel reviewed gene: SHANK2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.2235 SHROOM3 Chirag Patel reviewed gene: SHROOM3: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 32621286; Phenotypes: Anencephaly, cleft lip and palate; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.2234 SIN3A Chirag Patel reviewed gene: SIN3A: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 27399968; Phenotypes: Witteveen-Kolk syndrome, OMIM # 613406; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.2231 GUCY2C Zornitza Stark reviewed gene: GUCY2C: Rating: GREEN; Mode of pathogenicity: None; Publications: 22521417, 33883099, 31079856; Phenotypes: Meconium ileus, MIM# 614665; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.2230 SLC20A1 Chirag Patel reviewed gene: SLC20A1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32850778, 27013921; Phenotypes: Bladder-Exstrophy-Epispadias Complex (BEEC) , no OMIM #; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.2224 SLC25A19 Chirag Patel reviewed gene: SLC25A19: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 12185364; Phenotypes: Microcephaly, Amish type, OMIM # 607196, Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), OMIM #613710; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.2217 SLC24A4 Chirag Patel reviewed gene: SLC24A4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.2216 SMOC2 Chirag Patel reviewed gene: SMOC2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.2215 SMS Chirag Patel reviewed gene: SMS: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.2214 SRP54 Chirag Patel reviewed gene: SRP54: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.2213 STX1B Chirag Patel reviewed gene: STX1B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.2212 SYN1 Chirag Patel reviewed gene: SYN1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.2211 SZT2 Chirag Patel reviewed gene: SZT2: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 23932106, 30560016, 30359774, 28556953, 32402703; Phenotypes: Developmental and epileptic encephalopathy 18, OMIM #615476; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.2210 SPTAN1 Chirag Patel reviewed gene: SPTAN1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.2208 EXOC3L2 Chirag Patel reviewed gene: EXOC3L2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30327448, 34974531; Phenotypes: Dandy-Walker malformation, no OMIM #; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.2205 EXPH5 Chirag Patel reviewed gene: EXPH5: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 23176819, 32176379, 26211931, 27384765, 27730671; Phenotypes: Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive, OMIM #615028; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.2201 ELMO2 Chirag Patel reviewed gene: ELMO2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.2200 DCC Chirag Patel reviewed gene: DCC: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 20431009, 31697046, 21242494, 28250454, 28250456; Phenotypes: Mirror movements 1 and/or agenesis of the corpus callosum, OMIM #157600, Gaze palsy, familial horizontal, with progressive scoliosis, 2,OMIM # 617542; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.2199 TAC3 Chirag Patel reviewed gene: TAC3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.2198 TNFRSF13B Chirag Patel reviewed gene: TNFRSF13B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.2197 NXN Chirag Patel reviewed gene: NXN: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 29276006, 32954672, 33048444; Phenotypes: Robinow syndrome, autosomal recessive 2, OMIM #618529; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.2196 SNX10 Chirag Patel reviewed gene: SNX10: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.2195 SOX11 Chirag Patel reviewed gene: SOX11: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 24886874, 33785884; Phenotypes: Coffin-Siris syndrome 9, OMIM # 615866; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.2194 MEOX1 Chirag Patel reviewed gene: MEOX1: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 24073994, 23290072; Phenotypes: Klippel-Feil syndrome 2, OMIM #214300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.2193 OTUD6B Chirag Patel reviewed gene: OTUD6B: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 28343629, 32924626, 31147255; Phenotypes: Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies, OMIM #617452; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.2192 SGCG Chirag Patel reviewed gene: SGCG: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.2191 SLC6A17 Chirag Patel reviewed gene: SLC6A17: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.2190 RAB33B Chirag Patel reviewed gene: RAB33B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.2189 SERPINH1 Chirag Patel reviewed gene: SERPINH1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.2187 SERPINF1 Chirag Patel reviewed gene: SERPINF1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.2187 TMEM38B Chirag Patel reviewed gene: TMEM38B: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 23316006, 23054245, 26911354, 34902613; Phenotypes: Osteogenesis imperfecta, type XIV , OMIM #615066; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.2186 POLR3A Chirag Patel reviewed gene: POLR3A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.2185 POLR3B Chirag Patel reviewed gene: POLR3B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.2184 PYCR2 Chirag Patel reviewed gene: PYCR2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.2183 PITX1 Chirag Patel reviewed gene: PITX1: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 21775501, 22258522, 18950742; Phenotypes: Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly, OMIM #119800, Liebenberg syndrome , OMIM #186550; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.2182 FEZF1 Chirag Patel reviewed gene: FEZF1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.2181 NAXE Chirag Patel reviewed gene: NAXE: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.2180 TRMT10C Chirag Patel reviewed gene: TRMT10C: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.2179 PBX1 Chirag Patel reviewed gene: PBX1: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 28566479, 29036646; Phenotypes: Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay, OMIM #617641; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.2178 PFKM Chirag Patel reviewed gene: PFKM: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.2177 TRPM7 Chirag Patel reviewed gene: TRPM7: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.2176 PTH Chirag Patel reviewed gene: PTH: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.2175 SET Chirag Patel reviewed gene: SET: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.2071 PDE4D Zornitza Stark reviewed gene: PDE4D: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Acrodysostosis 2, with or without hormone resistance, MIM# 614613; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.2069 PDCD10 Zornitza Stark reviewed gene: PDCD10: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cerebral cavernous malformations 3 MIM#603285; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.2067 PCYT1A Zornitza Stark reviewed gene: PCYT1A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spondylometaphyseal dysplasia with cone-rod dystrophy, MIM# 608940; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.2064 LHX3 Zornitza Stark reviewed gene: LHX3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Pituitary hormone deficiency, combined, 3 (MIM#221750); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.2048 L1CAM Zornitza Stark changed review comment from: L1CAM conditions are typically associated with adducted thumb/lower limb spasticity. Single report identified of arthrogryposis.; to: Well established gene-disease association.
Fetal anomalies v0.2036 SPARC Chirag Patel reviewed gene: SPARC: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.2030 SLC25A22 Chirag Patel reviewed gene: SLC25A22: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.2024 MESD Chirag Patel reviewed gene: MESD: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.2019 SULT2B1 Chirag Patel reviewed gene: SULT2B1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.2017 PNPLA1 Chirag Patel reviewed gene: PNPLA1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.2016 ALOXE3 Chirag Patel reviewed gene: ALOXE3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.2015 ALOX12B Chirag Patel reviewed gene: ALOX12B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.2014 ST14 Chirag Patel reviewed gene: ST14: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.2013 NIPAL4 Chirag Patel reviewed gene: NIPAL4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.2012 TGM1 Chirag Patel reviewed gene: TGM1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.2011 SDR9C7 Chirag Patel reviewed gene: SDR9C7: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.2010 NUAK2 Chirag Patel reviewed gene: NUAK2: Rating: RED; Mode of pathogenicity: None; Publications: PubMed: 32845958; Phenotypes: ?Anencephaly 2, OMIM #619452; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.2009 FZD2 Chirag Patel reviewed gene: FZD2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25759469, 30455931, 29383834, 29230162,; Phenotypes: Omodysplasia 2, OMIM #164745; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.2008 TRPV3 Chirag Patel reviewed gene: TRPV3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.2007 TACR3 Chirag Patel reviewed gene: TACR3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.2007 TSFM Chirag Patel reviewed gene: TSFM: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.2006 TSFM Chirag Patel changed review comment from: Combined oxidative phosphorylation deficiency-3 not presenting antenatally. Not suitable for fetal anomalies panel.; to: Combined oxidative phosphorylation deficiency-3 can present with paucity of fetal movements, IUGR, and hypertrophic cardiomyopathy postnatally. Suitable for fetal anomalies panel.
Fetal anomalies v0.2005 TSFM Chirag Patel reviewed gene: TSFM: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.2004 TUBB3 Chirag Patel reviewed gene: TUBB3: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 20829227, 25059107, 32169460, 30272120; Phenotypes: Cortical dysplasia, complex, with other brain malformations 1, OMIM # 614039, Fibrosis of extraocular muscles, congenital, 3A, OMIM # 600638; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.2003 TUBG1 Chirag Patel reviewed gene: TUBG1: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 23603762, 29706637, 33728335; Phenotypes: Cortical dysplasia, complex, with other brain malformations 4, OMIM #615412; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.2002 VDR Chirag Patel reviewed gene: VDR: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.2001 VEGFC Chirag Patel reviewed gene: VEGFC: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.2000 WNT3 Chirag Patel reviewed gene: WNT3: Rating: RED; Mode of pathogenicity: None; Publications: PubMed: 14872406; Phenotypes: ?Tetra-amelia syndrome 1, OMIM #273395; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1995 KDM5C Zornitza Stark changed review comment from: Intellectual disability, progressive lower limb spasticity, epilepsy and a number of other more variable features. Affected females reported PMID 32279304.; to: Intellectual disability, progressive lower limb spasticity, epilepsy and a number of other more variable features. Affected females reported PMID 32279304.

Micro and macrocephaly reported.
Fetal anomalies v0.1985 MAMLD1 Zornitza Stark reviewed gene: MAMLD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26815876, 31555317, 32690052; Phenotypes: Hypospadias 2 (MIM#300758); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v0.1978 LAMB3 Zornitza Stark reviewed gene: LAMB3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Epidermolysis bullosa, junctional, Herlitz type (MIM#226700), Epidermolysis bullosa, junctional, non-Herlitz type (MIM#226650); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1973 LAMA3 Zornitza Stark reviewed gene: LAMA3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Epidermolysis bullosa, junctional, Herlitz type (MIM#226700), Epidermolysis bullosa, generalized atrophic benign (MIM#226650); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1969 SMAD4 Seb Lunke reviewed gene: SMAD4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Myhre syndrome, OMIM#139210, MONDO:0007688; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v0.1968 SMAD3 Seb Lunke reviewed gene: SMAD3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Loeys-Dietz syndrome, MIM#613795, MONDO:0018954; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v0.1966 SLC33A1 Seb Lunke reviewed gene: SLC33A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31194315; Phenotypes: CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION, OMIM#614482; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.1955 HPD Zornitza Stark reviewed gene: HPD: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1933 ITGA8 Ain Roesley reviewed gene: ITGA8: Rating: GREEN; Mode of pathogenicity: None; Publications: 24439109, 9054500; Phenotypes: Renal hypodysplasia/aplasia 1 MIM#191830; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.1933 INPP5K Ain Roesley reviewed gene: INPP5K: Rating: AMBER; Mode of pathogenicity: None; Publications: 28190456, 28190459, 28940338, 31630891, 33193651, 33792664; Phenotypes: Muscular dystrophy, congenital, with cataracts and intellectual disability MIM#617404; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.1933 LAMP2 Daniel Flanagan reviewed gene: LAMP2: Rating: RED; Mode of pathogenicity: None; Publications: 25228319, 27165304, 16217705; Phenotypes: Danon disease (MIM#300257); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fetal anomalies v0.1933 LAMB3 Daniel Flanagan reviewed gene: LAMB3: Rating: AMBER; Mode of pathogenicity: None; Publications: 11023379, 7706760; Phenotypes: Epidermolysis bullosa, junctional, Herlitz type (MIM#226700), Epidermolysis bullosa, junctional, non-Herlitz type (MIM#226650); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1933 LAMA3 Daniel Flanagan reviewed gene: LAMA3: Rating: AMBER; Mode of pathogenicity: None; Publications: 7633458, 8530087, 11810295, 10366601; Phenotypes: Epidermolysis bullosa, junctional, Herlitz type (MIM#226700), Epidermolysis bullosa, generalized atrophic benign (MIM#226650); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1933 IGFBP7 Ain Roesley reviewed gene: IGFBP7: Rating: RED; Mode of pathogenicity: None; Publications: Retinal arterial macroaneurysm with supravalvular pulmonic stenosis 614224; Phenotypes: Retinal arterial macroaneurysm with supravalvular pulmonic stenosis MIM#614224; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.1933 LAMA3 Daniel Flanagan reviewed gene: LAMA3: Rating: RED; Mode of pathogenicity: None; Publications: 7633458, 8530087, 11810295, 10366601; Phenotypes: Epidermolysis bullosa, generalized atrophic benign (MIM#226650), Epidermolysis bullosa, junctional, Herlitz type (MIM#226700), Laryngoonychocutaneous syndrome (MIM#245660); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1933 KIT Daniel Flanagan reviewed gene: KIT: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Gastrointestinal stromal tumor, familial (MIM#606764), Mastocytosis, cutaneous (MIM#154800), Piebaldism (MIM#172800); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1933 KISS1R Daniel Flanagan reviewed gene: KISS1R: Rating: RED; Mode of pathogenicity: None; Publications: 17164310, 31073722, 14573733; Phenotypes: Hypogonadotropic hypogonadism 8 with or without anosmia (MIM#614837); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1933 KCTD7 Daniel Flanagan reviewed gene: KCTD7: Rating: RED; Mode of pathogenicity: None; Publications: 33767931, 33970744, 22693283, 22748208; Phenotypes: Epilepsy, progressive myoclonic 3, with or without intracellular inclusions (MIM#611726); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1933 IDH1 Ain Roesley reviewed gene: IDH1: Rating: RED; Mode of pathogenicity: None; Publications: 34393643, 34588213, 34624834, 34720940; Phenotypes: Ollier disease MONDO:0008145, Maffucci syndromeMONDO:0013808; Mode of inheritance: Other; Current diagnostic: yes
Fetal anomalies v0.1933 HPD Ain Roesley reviewed gene: HPD: Rating: RED; Mode of pathogenicity: None; Publications: 10942115, 17560158, 27604308; Phenotypes: Hawkinsinuria (MIM#140350), AD, Tyrosinemia type III (MIM#276710), AR; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.1933 HNRNPH2 Ain Roesley reviewed gene: HNRNPH2: Rating: GREEN; Mode of pathogenicity: None; Publications: 34907471, 33728377, 31670473, 31236915, 30887513; Phenotypes: Intellectual developmental disorder, X-linked, syndromic, Bain type MIM#300986; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes
Fetal anomalies v0.1933 KCNT1 Daniel Flanagan reviewed gene: KCNT1: Rating: RED; Mode of pathogenicity: None; Publications: 23086397, 23086396, 31872048, 31532509; Phenotypes: Epilepsy, nocturnal frontal lobe, 5 (MIM#615005), Epileptic encephalopathy, early infantile, 14 (MIM#614959); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1933 KCNQ2 Daniel Flanagan reviewed gene: KCNQ2: Rating: RED; Mode of pathogenicity: None; Publications: 31105003, 33134511; Phenotypes: Developmental and epileptic encephalopathy 7 (MIM#613720), Myokymia (MIM#121200), Seizures, benign neonatal, 1 (MIM#121200); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1933 HMGA2 Ain Roesley reviewed gene: HMGA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 32421827, 29655892, 25809938, 29453418, 29655892, 28796236; Phenotypes: Silver-Russel syndrome, MIM#618908; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v0.1933 KCNJ11 Daniel Flanagan reviewed gene: KCNJ11: Rating: AMBER; Mode of pathogenicity: None; Publications: 15115830, 17327377; Phenotypes: Diabetes mellitus, transient neonatal 3 (MIM#610582), Diabetes, permanent neonatal 2, with or without neurologic features (MIM#618856); Mode of inheritance: None
Fetal anomalies v0.1926 GNAS Zornitza Stark reviewed gene: GNAS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pseudohypoparathyroidism Ia, MIM# 103580; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Fetal anomalies v0.1898 SLC27A4 Seb Lunke reviewed gene: SLC27A4: Rating: GREEN; Mode of pathogenicity: None; Publications: 21856041, 19631310, 31168818; Phenotypes: Ichthyosis prematurity syndrome, MIM#608649; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1893 TRPV6 Zornitza Stark reviewed gene: TRPV6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hyperparathyroidism, transient neonatal, MIM# 618188; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1889 EDN1 Belinda Chong reviewed gene: EDN1: Rating: AMBER; Mode of pathogenicity: None; Publications: 23315542 23913798 24268655; Phenotypes: Auriculocondylar syndrome 3, MIM# 615706; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.1885 SLC26A3 Seb Lunke reviewed gene: SLC26A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 31325522, 31477378, 21394828; Phenotypes: Diarrhea 1, secretory chloride, congenital, MIM#214700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1881 SLC26A2 Seb Lunke reviewed gene: SLC26A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301483, 20301689; Phenotypes: Achondrogenesis 1B, MIM#600972, Atelosteogenesis, type II, MIM#256050, Diastrophic dysplasia, MIM#222600, Epiphyseal dysplasia, multiple, 4, MIM#226900; Mode of inheritance: None
Fetal anomalies v0.1871 SLC25A24 Seb Lunke reviewed gene: SLC25A24: Rating: GREEN; Mode of pathogenicity: None; Publications: 29100093, 29100094, 29100094, 31775791, 32732226, 32860237; Phenotypes: FONTAINE PROGEROID SYNDROME, MIM#612289; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1869 SLC25A20 Seb Lunke reviewed gene: SLC25A20: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Carnitine-acylcarnitine translocase deficiency, MIM#212138; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.1869 TRPV4 Alison Yeung reviewed gene: TRPV4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Brachyolmia type 3, MIM# 113500, Metatropic dysplasia, MIM# 156530, SED, Maroteaux type, MIM# 184095, Spondylometaphyseal dysplasia, Kozlowski type, MIM# 184252; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v0.1868 TRPV6 Alison Yeung reviewed gene: TRPV6: Rating: GREEN; Mode of pathogenicity: None; Publications: 32383311, 31930989, 29861107; Phenotypes: Hyperparathyroidism, transient neonatal, MIM# 618188, Early onset chronic pancreatitis susceptibility; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.1868 TSC1 Alison Yeung reviewed gene: TSC1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Tuberous sclerosis-1, MIM# 191100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v0.1868 TSC2 Alison Yeung reviewed gene: TSC2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Tuberous sclerosis-2, MIM# 613254; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v0.1867 TTC37 Alison Yeung reviewed gene: TTC37: Rating: RED; Mode of pathogenicity: None; Publications: 20176027, 17318842; Phenotypes: Trichohepatoenteric syndrome 1, MIM# 222470; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.1867 TTC7A Alison Yeung reviewed gene: TTC7A: Rating: GREEN; Mode of pathogenicity: None; Publications: 24417819, 24292712, 23830146, 29174094, 31743734; Phenotypes: Gastrointestinal defects and immunodeficiency syndrome, MIM# 243150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.1867 TUBA1A Alison Yeung reviewed gene: TUBA1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 30517687, 20466733; Phenotypes: Lissencephaly 3, MIM# 611603; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Fetal anomalies v0.1866 TUBA8 Alison Yeung reviewed gene: TUBA8: Rating: RED; Mode of pathogenicity: None; Publications: 28388629; Phenotypes: ; Mode of inheritance: Unknown
Fetal anomalies v0.1866 TUBB4A Alison Yeung reviewed gene: TUBB4A: Rating: GREEN; Mode of pathogenicity: None; Publications: 27809427; Phenotypes: Leukodystrophy, hypomyelinating, 6, MIM# 602662; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Fetal anomalies v0.1866 TWIST1 Alison Yeung reviewed gene: TWIST1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17343269, 9585583, 12116251, 31299755, 30040876; Phenotypes: Craniosynostosis 1, MIM# 123100, Saethre-Chotzen syndrome with or without eyelid anomalies, MIM# 101400, Sweeny-Cox syndrome, MIM# 617746; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Fetal anomalies v0.1865 UROS Alison Yeung reviewed gene: UROS: Rating: RED; Mode of pathogenicity: None; Publications: 24027798, 12533808; Phenotypes: PORPHYRIA, CONGENITAL ERYTHROPOIETIC (MIM #263700); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.1864 DZIP1L Zornitza Stark reviewed gene: DZIP1L: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Polycystic kidney disease 5, MIM#617610; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1862 REN Zornitza Stark reviewed gene: REN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Renal tubular dysgenesis, MIM#267430; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1858 DZIP1L Belinda Chong reviewed gene: DZIP1L: Rating: GREEN; Mode of pathogenicity: None; Publications: 28530676; Phenotypes: Polycystic kidney disease 5, MIM#617610; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.1854 DSG1 Zornitza Stark reviewed gene: DSG1: Rating: AMBER; Mode of pathogenicity: None; Publications: 26288349; Phenotypes: Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE, AR (MIM#615508); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1851 DPF2 Zornitza Stark reviewed gene: DPF2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Coffin-Siris syndrome 7, MIM#618027; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1849 DNAJC19 Zornitza Stark reviewed gene: DNAJC19: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: 3-methylglutaconic aciduria, type V MIM#610198; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1849 REN Naomi Baker reviewed gene: REN: Rating: GREEN; Mode of pathogenicity: None; Publications: 16116425, 22095942; Phenotypes: Renal tubular dysgenesis, MIM#267430; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1849 RELN Naomi Baker reviewed gene: RELN: Rating: GREEN; Mode of pathogenicity: None; Publications: 10973257, 29671837, 16958033, 31805691; Phenotypes: Lissencephaly 2 (Norman-Roberts type), MIM# 257320; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1849 RAB23 Naomi Baker reviewed gene: RAB23: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID:17503333, 21412941, 23599695, 25168863; Phenotypes: Carpenter syndrome (MIM#201000); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1849 KCNJ10 Daniel Flanagan reviewed gene: KCNJ10: Rating: RED; Mode of pathogenicity: None; Publications: 19289823, 19420365, 21849804, 19426954; Phenotypes: SESAME syndrome (MIM#612780), Enlarged vestibular aqueduct, digenic (MIM#600791); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1844 DSG1 Belinda Chong reviewed gene: DSG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19558595, 29315490, 31192455, 23974871, 29229434, 33666035; Phenotypes: Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE, AR (MIM#615508), Keratosis palmoplantaris striata I, AD (MIM# 148700); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.1837 GBA2 Zornitza Stark Phenotypes for gene: GBA2 were changed from AUTOSOMAL-RECESSIVE CEREBELLAR ATAXIA WITH SPASTICITY. to Spastic paraplegia 46, autosomal recessive, MIM#614409
Fetal anomalies v0.1823 KCNE1 Daniel Flanagan reviewed gene: KCNE1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Jervell and Lange-Nielsen syndrome 2 (MIM#612347), Long QT syndrome 5 (MIM#613695); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.1823 KCNC1 Daniel Flanagan reviewed gene: KCNC1: Rating: RED; Mode of pathogenicity: None; Publications: 25401298; Phenotypes: Epilepsy, progressive myoclonic 7 (MIM#616187); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1823 KBTBD13 Daniel Flanagan reviewed gene: KBTBD13: Rating: RED; Mode of pathogenicity: None; Publications: 11731279, 21104864; Phenotypes: Nemaline myopathy 6, autosomal dominant (MIM#609273); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1823 JAK3 Daniel Flanagan reviewed gene: JAK3: Rating: RED; Mode of pathogenicity: None; Publications: 7659163, 7481768; Phenotypes: SCID, autosomal recessive, T-negative/B-positive type (MIM#600802); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1818 DPF2 Belinda Chong reviewed gene: DPF2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29429572, 31706665; Phenotypes: Coffin-Siris syndrome 7 MIM#618027; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v0.1813 JAGN1 Daniel Flanagan reviewed gene: JAGN1: Rating: AMBER; Mode of pathogenicity: None; Publications: 25129144; Phenotypes: Neutropenia, severe congenital, 6, autosomal recessive (MIM#616022); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1809 DNAJC19 Belinda Chong reviewed gene: DNAJC19: Rating: GREEN; Mode of pathogenicity: None; Publications: 16055927, 17244376, 22797137; Phenotypes: 3-methylglutaconic aciduria, type V MIM#610198; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.1808 SGPL1 Seb Lunke reviewed gene: SGPL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33074640; Phenotypes: Sphingosine Phosphate Lyase Insufficiency Syndrome, Nephrotic syndrome, type 14, MIM#617575; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.1802 DNAJB11 Belinda Chong reviewed gene: DNAJB11: Rating: GREEN; Mode of pathogenicity: None; Publications: 29706351, 29777155, 33129895, 34177435; Phenotypes: Polycystic kidney disease 6 with or without polycystic liver disease, MIM#618061, Ivermark II syndrome.; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.1802 LRIG2 Daniel Flanagan reviewed gene: LRIG2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23313374, 27855655, 30885509; Phenotypes: Urofacial syndrome 2 (MIM#615112); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1798 FOXP3 Zornitza Stark reviewed gene: FOXP3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, 304790; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v0.1786 GRM1 Zornitza Stark reviewed gene: GRM1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spinocerebellar ataxia, autosomal recessive 13 MIM#614831; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1784 LRAT Daniel Flanagan reviewed gene: LRAT: Rating: RED; Mode of pathogenicity: None; Publications: 11381255, 18055821, 22570351, 17011878, 29973277, 24625443, 22559933, 31448181; Phenotypes: Leber congenital amaurosis 14 MIM#613341, Retinal dystrophy, early-onset severe MIM#613341, Retinitis pigmentosa, juvenile MIM#613341; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1783 SLC25A38 Zornitza Stark reviewed gene: SLC25A38: Rating: AMBER; Mode of pathogenicity: None; Publications: 34298585; Phenotypes: Anaemia, sideroblastic, 2, pyridoxine-refractory, MIM#205950; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1779 GREB1L Zornitza Stark reviewed gene: GREB1L: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Renal hypodysplasia/aplasia 3, OMIM# 617805; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1779 LIPN Daniel Flanagan reviewed gene: LIPN: Rating: RED; Mode of pathogenicity: None; Publications: 21439540; Phenotypes: Ichthyosis, congenital, autosomal recessive 8 (MIM#613943); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1774 GPC6 Zornitza Stark reviewed gene: GPC6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Omodysplasia 1, MIM#258315; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1770 GNA11 Zornitza Stark Mode of pathogenicity for gene: GNA11 was changed from to Other
Fetal anomalies v0.1767 GNA11 Zornitza Stark reviewed gene: GNA11: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypocalcemia, autosomal dominant 2 MIM#615361, Hypocalciuric hypercalcemia, type II MIM#145981; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1765 GZF1 Ain Roesley reviewed gene: GZF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33009817, 28475863; Phenotypes: Joint laxity, short stature, and myopia, MIM# 617662, Larsen-like syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.1765 GSC Ain Roesley reviewed gene: GSC: Rating: GREEN; Mode of pathogenicity: None; Publications: 24290375; Phenotypes: Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities, MIM# 602471; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.1765 GRM1 Ain Roesley reviewed gene: GRM1: Rating: RED; Mode of pathogenicity: None; Publications: 22901947, 26308914; Phenotypes: Spinocerebellar ataxia, autosomal recessive 13 MIM#614831; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.1762 GRHL2 Ain Roesley reviewed gene: GRHL2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27612988, 19415813, 25152456; Phenotypes: Ectodermal dysplasia/short stature syndrome MIM#616029; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.1759 GRHL2 Ain Roesley reviewed gene: GRHL2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27612988, 25152456, 19415813; Phenotypes: Ectodermal dysplasia/short stature syndrome MIM#616029; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.1756 SLC25A38 Seb Lunke reviewed gene: SLC25A38: Rating: RED; Mode of pathogenicity: None; Publications: 19412178, 31338833; Phenotypes: Anemia, sideroblastic, 2, pyridoxine-refractory, MIM#205950; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.1754 SLC17A5 Seb Lunke reviewed gene: SLC17A5: Rating: GREEN; Mode of pathogenicity: None; Publications: 33862140, 10581036, 10947946; Phenotypes: Sialic acid storage disorder, infantile, MIM#269920, MONDO:0010027; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1754 GREB1L Ain Roesley reviewed gene: GREB1L: Rating: GREEN; Mode of pathogenicity: None; Publications: 29100091, 29955957, 32585897; Phenotypes: Renal hypodysplasia/aplasia 3, OMIM# 617805, Deafness, autosomal dominant 80, MIM# 619274; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v0.1754 GPX4 Ain Roesley reviewed gene: GPX4: Rating: GREEN; Mode of pathogenicity: None; Publications: 24706940, 32827718; Phenotypes: Spondylometaphyseal dysplasia, Sedaghatian type MIM#250220; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.1753 SLC12A6 Seb Lunke reviewed gene: SLC12A6: Rating: GREEN; Mode of pathogenicity: None; Publications: 31439721, 27485015, 16606917, 21628467, 12368912, 17893295; Phenotypes: Agenesis of the corpus callosum with peripheral neuropathy, MIM#21800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.1753 GPKOW Ain Roesley reviewed gene: GPKOW: Rating: RED; Mode of pathogenicity: None; Publications: 28612833; Phenotypes: male-lethal microcephaly with intrauterine growth restriction; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Fetal anomalies v0.1753 GPC6 Ain Roesley reviewed gene: GPC6: Rating: GREEN; Mode of pathogenicity: None; Publications: 19481194, 32655339; Phenotypes: Omodysplasia 1 MIM#258315; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.1753 GNA11 Ain Roesley reviewed gene: GNA11: Rating: AMBER; Mode of pathogenicity: Other; Publications: 23802536, 23802516, 24823460, 26818911, 27334330; Phenotypes: Hypocalcemia, autosomal dominant 2 MIM#615361, Hypocalciuric hypercalcemia, type II MIM#145981; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v0.1736 DHTKD1 Zornitza Stark reviewed gene: DHTKD1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: 2-aminoadipic 2-oxoadipic aciduria MIM#204750, Disorders of histidine, tryptophan or lysine metabolism; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1736 SKI Zornitza Stark reviewed gene: SKI: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Shprintzen-Goldberg syndrome, MIM#182212; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1734 SIX5 Zornitza Stark reviewed gene: SIX5: Rating: AMBER; Mode of pathogenicity: None; Publications: 17357085, 33624842, 20301554, 24730701, 22447252, 21280147, 14704431, 11950062, 10802667, 10802668; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.1725 DLX5 Belinda Chong reviewed gene: DLX5: Rating: GREEN; Mode of pathogenicity: None; Publications: 22121204, 24496061, 25196357, 20534536, 12112878; Phenotypes: Split-hand/foot malformation 1 with sensorineural hearing loss MIM#220600, Split-hand/foot malformation 1 MIM#183600; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.1725 DLX5 Belinda Chong reviewed gene: DLX5: Rating: GREEN; Mode of pathogenicity: None; Publications: 22121204, 24496061, 25196357, 20534536, 12112878; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.1724 SKI Seb Lunke Added comment: Comment on mode of pathogenicity: LoF not fully established on only missense described so far. Some functional work suggest potential GoF for TGF beta signalling, but not conclusive. Not enough evidence so far to go against LoF.
Fetal anomalies v0.1724 SKI Seb Lunke Mode of pathogenicity for gene: SKI was changed from to None
Fetal anomalies v0.1723 DHTKD1 Belinda Chong reviewed gene: DHTKD1: Rating: AMBER; Mode of pathogenicity: None; Publications: 23141294, 29661920, 28902413, 27604308, 23141293, 25860818; Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2Q, MIM#615025, Alpha-aminoadipic and alpha-ketoadipic aciduria MIM#204750; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.1720 SKI Seb Lunke reviewed gene: SKI: Rating: GREEN; Mode of pathogenicity: None; Publications: 15884042, 23023332; Phenotypes: Shprintzen-Goldberg syndrome, MIM#182212; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1719 SIX5 Seb Lunke reviewed gene: SIX5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Branchiootorenal syndrome 2, MIM#610896; Mode of inheritance: None; Current diagnostic: yes
Fetal anomalies v0.1716 COX15 Zornitza Stark reviewed gene: COX15: Rating: AMBER; Mode of pathogenicity: None; Publications: 21412973, 33746038, 32232962; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 6, MIM# 615119; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1688 CHRDL1 Zornitza Stark reviewed gene: CHRDL1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Megalocornea 1, X-linked, MIM# 309300; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v0.1686 CHD2 Zornitza Stark reviewed gene: CHD2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental and epileptic encephalopathy 94, MIM# 615369; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1680 CCDC115 Zornitza Stark reviewed gene: CCDC115: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of glycosylation, type IIo, MIM# 616828; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1678 CC2D1A Zornitza Stark reviewed gene: CC2D1A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mental retardation, autosomal recessive 3, MIM# 608443; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1677 CBS Zornitza Stark reviewed gene: CBS: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Homocystinuria, B6-responsive and nonresponsive types, MIM# 236200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1676 CAVIN1 Zornitza Stark reviewed gene: CAVIN1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Lipodystrophy, congenital generalized, type 4, MIM# 613327; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1671 C2orf71 Zornitza Stark reviewed gene: C2orf71: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Retinitis pigmentosa 54, MIM# 613428; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1671 SETBP1 Zornitza Stark commented on gene: SETBP1: GoF variants cause Schinzel-Giedion syndrome, a severe multi-system disorder characterized by recognizable facial characteristics, severe-profound intellectual disability, intractable epilepsy, cortical visual impairment, deafness, and congenital anomalies such as cardiac defects, urogenital defects, and bone abnormalities. Causative pathogenic variants are clustered within a 12-base pair hot spot region in exon 4.

LoF variants cause SETBP1-haploinsufficiency syndrome, characterized by hypotonia and mild motor developmental delay; intellectual abilities ranging from normal to severe disability; speech and language disorder; behavioral problems (most commonly attention/concentration deficits and hyperactivity, impulsivity), and refractive errors and strabismus. Over 40 individuals reviewed in PMID 34807554. This disorder typically presents post-natally.
Fetal anomalies v0.1669 SETBP1 Zornitza Stark reviewed gene: SETBP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Schinzel-Giedion midface retraction syndrome, MIM# 269150; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1666 SCO2 Zornitza Stark reviewed gene: SCO2: Rating: AMBER; Mode of pathogenicity: None; Publications: 15210538; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 2, MIM# 604377; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1665 TRAP1 Zornitza Stark reviewed gene: TRAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24152966; Phenotypes: CAKUT, VACTERL; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1663 SH3PXD2B Seb Lunke reviewed gene: SH3PXD2B: Rating: GREEN; Mode of pathogenicity: None; Publications: 15523657, 24105366; Phenotypes: Frank-ter Haar syndrome, MIM#249420; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1655 SCN4A Seb Lunke reviewed gene: SCN4A: Rating: GREEN; Mode of pathogenicity: None; Publications: 26700687; Phenotypes: Congenital myopathy, Myasthenic syndrome, congenital, 16 MIM#614198; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.1650 BRWD3 Zornitza Stark reviewed gene: BRWD3: Rating: AMBER; Mode of pathogenicity: None; Publications: 30628072, 24462886; Phenotypes: Intellectual developmental disorder, X-linked 93, MIM# 300659; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v0.1648 BRCA1 Zornitza Stark reviewed gene: BRCA1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fanconi anaemia, complementation group S, MIM# 617883; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1647 BCKDHB Zornitza Stark reviewed gene: BCKDHB: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Maple syrup urine disease, type Ib, MIM# 248600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1646 BCKDHA Zornitza Stark reviewed gene: BCKDHA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Maple syrup urine disease, type Ia, MIM# 248600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1641 AUH Zornitza Stark reviewed gene: AUH: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: 3-methylglutaconic aciduria, type I, MIM# 250950; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1640 ATP8B1 Zornitza Stark reviewed gene: ATP8B1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cholestasis, progressive familial intrahepatic 1, MIM# 211600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1639 ATP6V1B1 Zornitza Stark reviewed gene: ATP6V1B1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Distal renal tubular acidosis 2 with progressive sensorineural hearing loss, MIM# 267300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1634 ATP13A2 Zornitza Stark reviewed gene: ATP13A2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Kufor-Rakeb syndrome, MIM# 606693, Spastic paraplegia 78, autosomal recessive, MIM# 617225; Mode of inheritance: None
Fetal anomalies v0.1633 ATM Zornitza Stark reviewed gene: ATM: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ataxia-telangiectasia, MIM# 208900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1628 ARG1 Zornitza Stark reviewed gene: ARG1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Argininaemia, MIM# 207800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1621 AP3B1 Zornitza Stark reviewed gene: AP3B1: Rating: RED; Mode of pathogenicity: None; Publications: 10024875, 11809908, 14566336; Phenotypes: Hermansky-Pudlak syndrome 2, MIM# 608233, MONDO:0011997; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1620 ANO5 Zornitza Stark reviewed gene: ANO5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Gnathodiaphyseal dysplasia, MIM# 166260, Miyoshi muscular dystrophy 3, MIM# 613319, Muscular dystrophy, limb-girdle, autosomal recessive 12, MIM# 611307; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.1615 ALDH4A1 Zornitza Stark reviewed gene: ALDH4A1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hyperprolinaemia, type II, MIM# 239510; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1615 TWIST2 Alison Yeung reviewed gene: TWIST2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26119818, 20691403; Phenotypes: Ablepharon-macrostomia syndrome, MIM# 200110, Barber-Say syndrome, MIM# 209885, Focal facial dermal dysplasia 3, Setleis type, MIM# 227260; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.1611 TXNL4A Alison Yeung reviewed gene: TXNL4A: Rating: GREEN; Mode of pathogenicity: None; Publications: 25434003; Phenotypes: BURN-MCKEOWN SYNDROME, MIM# 608572; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1611 VLDLR Alison Yeung reviewed gene: VLDLR: Rating: GREEN; Mode of pathogenicity: None; Publications: 16080122, 18326629, 10380922; Phenotypes: Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, MIM# 224050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.1610 ALAD Zornitza Stark reviewed gene: ALAD: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Porphyria, acute hepatic , MIM#612740; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1605 FLT4 Zornitza Stark reviewed gene: FLT4: Rating: GREEN; Mode of pathogenicity: None; Publications: 9817924, 10835628, 12960217; Phenotypes: Lymphatic malformation 1, MIM# 153100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1591 FGFR1 Zornitza Stark Mode of pathogenicity for gene: FGFR1 was changed from to Other
Fetal anomalies v0.1557 SCN2A Zornitza Stark reviewed gene: SCN2A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental and epileptic encephalopathy 11, MIM# 613721; Mode of inheritance: None
Fetal anomalies v0.1555 VPS53 Zornitza Stark reviewed gene: VPS53: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pontocerebellar hypoplasia, type 2E, OMIM #615851; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1547 GM2A Zornitza Stark reviewed gene: GM2A: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: GM2-gangliosidosis, AB variant MIM#272750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1547 VPS53 Alison Yeung reviewed gene: VPS53: Rating: GREEN; Mode of pathogenicity: None; Publications: 24577744, 12920088; Phenotypes: Pontocerebellar hypoplasia, type 2E, OMIM #615851; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1538 WNT10B Alison Yeung reviewed gene: WNT10B: Rating: GREEN; Mode of pathogenicity: None; Publications: 20635353, 24211389, 27321946; Phenotypes: Split-hand/foot malformation 6, OMIM #601906; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.1536 GANAB Zornitza Stark reviewed gene: GANAB: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Polycystic kidney disease 3, MIM#600666; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1534 GABRB2 Zornitza Stark Mode of pathogenicity for gene: GABRB2 was changed from to Other
Fetal anomalies v0.1526 TBX2 Zornitza Stark reviewed gene: TBX2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Vertebral anomalies and variable endocrine and T-cell dysfunction - MIM#618223; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1516 ROBO4 Zornitza Stark reviewed gene: ROBO4: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.1515 WRAP53 Alison Yeung reviewed gene: WRAP53: Rating: RED; Mode of pathogenicity: None; Publications: 21205863, 32303682, 29514627; Phenotypes: Dyskeratosis congenita, autosomal recessive 3, OMIM #613988; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.1508 PRDM6 Zornitza Stark reviewed gene: PRDM6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Patent ductus arteriosus 3 - MIM#617039; Mode of inheritance: None
Fetal anomalies v0.1504 NKX2-6 Zornitza Stark reviewed gene: NKX2-6: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Conotruncal heart malformations - MIM#217095, Persistent truncus arteriosus - MIM#217095; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1496 FAH Zornitza Stark reviewed gene: FAH: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Tyrosinemia, type I, MIM#276700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1496 YY1 Alison Yeung reviewed gene: YY1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28575647; Phenotypes: Gabriele-de Vries syndrome, OMIM #617557; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1489 GM2A Ain Roesley reviewed gene: GM2A: Rating: GREEN; Mode of pathogenicity: None; Publications: 28417072, 28192816, 27402091; Phenotypes: GM2-gangliosidosis, AB variant MIM#272750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.1489 FOXH1 Zornitza Stark reviewed gene: FOXH1: Rating: RED; Mode of pathogenicity: None; Publications: 32003456; Phenotypes: Congenital heart disease; Mode of inheritance: None
Fetal anomalies v0.1488 CITED2 Zornitza Stark Marked gene: CITED2 as ready
Fetal anomalies v0.1488 CITED2 Zornitza Stark Gene: cited2 has been classified as Green List (High Evidence).
Fetal anomalies v0.1488 CITED2 Zornitza Stark Publications for gene: CITED2 were set to 11694877; 16287139
Fetal anomalies v0.1487 CITED2 Zornitza Stark Classified gene: CITED2 as Green List (high evidence)
Fetal anomalies v0.1487 CITED2 Zornitza Stark Gene: cited2 has been classified as Green List (High Evidence).
Fetal anomalies v0.1486 CITED2 Zornitza Stark reviewed gene: CITED2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33706167, 33439552, 31515672, 29536580; Phenotypes: Atrial septal defect 8 - MIM#614433, Ventricular septal defect 2 - MIM#614431; Mode of inheritance: None
Fetal anomalies v0.1485 BMPR2 Zornitza Stark reviewed gene: BMPR2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.1477 GLI1 Ain Roesley reviewed gene: GLI1: Rating: GREEN; Mode of pathogenicity: None; Publications: 34721536, 31621941, 31549748, 30620395; Phenotypes: Polydactyly, postaxial, type A8 MIM#618123, Polydactyly, preaxial I MIM#174400; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.1469 GFRA1 Ain Roesley reviewed gene: GFRA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 34737117, 33020172; Phenotypes: renal agenesis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.1469 GATA3 Ain Roesley reviewed gene: GATA3: Rating: GREEN; Mode of pathogenicity: None; Publications: 29663634; Phenotypes: Hypoparathyroidism, sensorineural deafness, and renal dysplasia MIM146255; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v0.1469 GANAB Ain Roesley reviewed gene: GANAB: Rating: AMBER; Mode of pathogenicity: None; Publications: 27259053, 33097077; Phenotypes: Polycystic kidney disease 3 MIM#600666; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v0.1469 GABRB2 Ain Roesley reviewed gene: GABRB2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 29100083, 27789573, 33325057; Phenotypes: Developmental and epileptic encephalopathy 92 MIM#617829; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v0.1469 FAM58A Belinda Chong reviewed gene: FAM58A: Rating: GREEN; Mode of pathogenicity: None; Publications: 18297069, 8818947, 28225384; Phenotypes: STAR syndrome MIM#300707; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes
Fetal anomalies v0.1469 FAM20C Belinda Chong reviewed gene: FAM20C: Rating: GREEN; Mode of pathogenicity: None; Publications: 19250384, 20825432, 17924334; Phenotypes: Raine syndrome MIM#259775; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.1469 FAM20A Belinda Chong reviewed gene: FAM20A: Rating: RED; Mode of pathogenicity: None; Publications: 23468644, 18597613, 21549343, 21990045; Phenotypes: Amelogenesis imperfecta, type IG (enamel-renal syndrome) 204690; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.1469 LINS1 Daniel Flanagan reviewed gene: LINS1: Rating: AMBER; Mode of pathogenicity: None; Publications: 23773660, 21937992, 32499722, 28181389; Phenotypes: Mental retardation, autosomal recessive 27 (MIM#614340), autosomal recessive intellectual disability (MIM#614340); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1469 FAM126A Belinda Chong reviewed gene: FAM126A: Rating: GREEN; Mode of pathogenicity: None; Publications: 21911699, 17928815, 17683097, 16951682; Phenotypes: Leukodystrophy, hypomyelinating, 5 MIM#610532; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.1469 KRT74 Daniel Flanagan reviewed gene: KRT74: Rating: RED; Mode of pathogenicity: None; Publications: 21188418; Phenotypes: Woolly hair, autosomal dominant (MIM#194300); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1469 FAH Belinda Chong reviewed gene: FAH: Rating: GREEN; Mode of pathogenicity: None; Publications: 15759101; Phenotypes: Tyrosinemia, type I, MIM#276700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.1469 KCNJ8 Daniel Flanagan reviewed gene: KCNJ8: Rating: GREEN; Mode of pathogenicity: Other; Publications: 24176758, 24700710, 32215968; Phenotypes: Cantú Syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Fetal anomalies v0.1467 AKR1D1 Zornitza Stark reviewed gene: AKR1D1: Rating: RED; Mode of pathogenicity: None; Publications: 12970144, 20522910; Phenotypes: Bile acid synthesis defect, congenital, 2, MIM# 235555; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1465 AK2 Zornitza Stark reviewed gene: AK2: Rating: RED; Mode of pathogenicity: None; Publications: 19043416, 19043417; Phenotypes: Reticular dysgenesis, MIM# 267500, MONDO:0009973; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1464 AIRE Zornitza Stark reviewed gene: AIRE: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, MIM# 240300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1464 CITED2 Krithika Murali gene: CITED2 was added
gene: CITED2 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: CITED2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CITED2 were set to 11694877; 16287139
Phenotypes for gene: CITED2 were set to Atrial septal defect 8 - MIM#614433; Ventricular septal defect 2 - MIM#614431; Congenital heart disease
Review for gene: CITED2 was set to GREEN
Added comment: Variants associated with congenital heart defects. Supportive functional evidence and animal models
Sources: Literature
Fetal anomalies v0.1461 AIPL1 Zornitza Stark reviewed gene: AIPL1: Rating: RED; Mode of pathogenicity: None; Publications: 10615133; Phenotypes: Leber congenital amaurosis 4, 604393, Cone-rod dystrophy, 604393, Retinitis pigmentosa, juvenile, 604393; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.1459 AGXT Zornitza Stark reviewed gene: AGXT: Rating: RED; Mode of pathogenicity: None; Publications: 2039493, 19479957; Phenotypes: Hyperoxaluria, primary, type 1, MIM# 259900 MONDO:0009823; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1455 AGPAT2 Zornitza Stark reviewed gene: AGPAT2: Rating: RED; Mode of pathogenicity: None; Publications: 11967537; Phenotypes: Lipodystrophy, congenital generalized, type 1, MIM# 608594; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1450 ADA Zornitza Stark reviewed gene: ADA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Severe combined immunodeficiency due to ADA deficiency, MIM# 102700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1450 OSTM1 Daniel Flanagan reviewed gene: OSTM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12627228, 15108279, 16813530, 23772242, 32048120; Phenotypes: Osteopetrosis, autosomal recessive 5 (MIM#259720); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1446 ACVRL1 Zornitza Stark reviewed gene: ACVRL1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Telangiectasia, hereditary hemorrhagic, type 2, MIM# 600376; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1446 ACADS Zornitza Stark reviewed gene: ACADS: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Acyl-CoA dehydrogenase, short-chain, deficiency of, MIM# 201470; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1446 ACADM Zornitza Stark reviewed gene: ACADM: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Acyl-CoA dehydrogenase, medium chain, deficiency of, MIM# 201450; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1445 ABCD1 Zornitza Stark reviewed gene: ABCD1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Adrenoleukodystrophy, MIM# 300100; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v0.1445 OPHN1 Daniel Flanagan reviewed gene: OPHN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20528889, 9582072, 12807966, 16221952; Phenotypes: Intellectual developmental disorder, X-linked syndromic, Billuart type (MIM#300486); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v0.1443 ABCC8 Zornitza Stark reviewed gene: ABCC8: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Diabetes mellitus, permanent neonatal 3, with or without neurologic features, MIM# 618857; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.1442 ABCB7 Zornitza Stark reviewed gene: ABCB7: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Anemia, sideroblastic, with ataxia, MIM# 301310; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v0.1441 ABCB11 Zornitza Stark reviewed gene: ABCB11: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cholestasis, benign recurrent intrahepatic, 2, MIM# 605479 AR Cholestasis, progressive familial intrahepatic 2, MIM# 601847 AR; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1439 OCLN Daniel Flanagan reviewed gene: OCLN: Rating: GREEN; Mode of pathogenicity: None; Publications: 20727516, 32240828, 29192239, 28386946; Phenotypes: Pseudo-TORCH syndrome 1 (MIM#251290); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1437 CYP4F22 Zornitza Stark reviewed gene: CYP4F22: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ichthyosis, congenital, autosomal recessive 5, MIM# 604777; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1437 OBSL1 Daniel Flanagan reviewed gene: OBSL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21737058, 19481195, 23018678, 19877176; Phenotypes: 3-M syndrome 2 (MIM#612921); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1437 NUBPL Daniel Flanagan reviewed gene: NUBPL: Rating: GREEN; Mode of pathogenicity: None; Publications: 29982452; Phenotypes: Mitochondrial complex I deficiency, nuclear type 21 (MIM#618242); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1437 NR5A1 Daniel Flanagan reviewed gene: NR5A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31513305; Phenotypes: 46, XX sex reversal 4 (MIM#617480), 46XY sex reversal 3 (MIM#612965); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1437 NR0B1 Daniel Flanagan reviewed gene: NR0B1: Rating: AMBER; Mode of pathogenicity: None; Publications: 7951319, 23384712; Phenotypes: 46XY sex reversal 2, dosage-sensitive (MIM#300018), Adrenal hypoplasia, congenital (MIM#300200); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v0.1437 NR0B1 Daniel Flanagan reviewed gene: NR0B1: Rating: RED; Mode of pathogenicity: None; Publications: 7951319, 23384712; Phenotypes: 46XY sex reversal 2, dosage-sensitive (MIM#300018), Adrenal hypoplasia, congenital (MIM#300200); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v0.1434 CYP26B1 Zornitza Stark reviewed gene: CYP26B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27410456, 22019272; Phenotypes: Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies, MIM# 614416; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1433 CYB5R3 Zornitza Stark reviewed gene: CYB5R3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Methaemoglobinemia, type II, MIM# 250800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1417 CSTA Zornitza Stark reviewed gene: CSTA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Peeling skin syndrome 4, MIM# 607936; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1411 CREB3L1 Zornitza Stark reviewed gene: CREB3L1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24079343, 28817112, 29936144, 30657919; Phenotypes: Osteogenesis imperfecta, type XVI, 616229; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1403 CPAMD8 Zornitza Stark reviewed gene: CPAMD8: Rating: GREEN; Mode of pathogenicity: None; Publications: 32274568; Phenotypes: Anterior segment dysgenesis 8, MIM# 617319; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1397 HOXB1 Zornitza Stark reviewed gene: HOXB1: Rating: RED; Mode of pathogenicity: None; Publications: 22770981, 26007620, 27144914; Phenotypes: Facial paresis, hereditary congenital, 3, MIM# 614744, MONDO:0013880; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1388 COL25A1 Zornitza Stark reviewed gene: COL25A1: Rating: RED; Mode of pathogenicity: None; Publications: 25500261, 26486031, 31875546, 26437029; Phenotypes: Fibrosis of extraocular muscles, congenital, 5, MIM# 616219; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1386 COL13A1 Zornitza Stark reviewed gene: COL13A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31081514, 28369367, 20844119; Phenotypes: Myasthenic syndrome, congenital, 19 (OMIM #616720); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1383 ZBTB18 Zornitza Stark reviewed gene: ZBTB18: Rating: GREEN; Mode of pathogenicity: None; Publications: 29573576; Phenotypes: Mental retardation, autosomal dominant 22, MIM# 612337; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1380 ZBTB20 Zornitza Stark reviewed gene: ZBTB20: Rating: GREEN; Mode of pathogenicity: None; Publications: 25017102, 27061120, 30256248; Phenotypes: Primrose syndrome, MIM# 259050; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1372 ZBTB18 Alison Yeung reviewed gene: ZBTB18: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ZBTB18 syndrome, Intellectual disability, microcephaly, corpus callosum abnormalities, OMIM #612337; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v0.1372 ZBTB20 Alison Yeung reviewed gene: ZBTB20: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Primrose syndrome OMIM # 259050; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1372 ZFP57 Alison Yeung reviewed gene: ZFP57: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Diabetes mellitus, transient neonatal 1, OMIM #601410; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Fetal anomalies v0.1372 ZIC2 Alison Yeung reviewed gene: ZIC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 20531442; Phenotypes: Holoprosencephaly 5, OMIM #609637; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v0.1369 COL12A1 Zornitza Stark reviewed gene: COL12A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24334604, 24334769, 21670218; Phenotypes: Bethlem myopathy 2, MIM# 616471; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1359 CNTN1 Zornitza Stark reviewed gene: CNTN1: Rating: RED; Mode of pathogenicity: None; Publications: 19026398; Phenotypes: Myopathy, congenital, Compton-North 612540; Mode of inheritance: None
Fetal anomalies v0.1355 CNKSR2 Zornitza Stark reviewed gene: CNKSR2: Rating: RED; Mode of pathogenicity: None; Publications: 34266427; Phenotypes: Intellectual developmental disorder, X-linked, syndromic, Houge type, MIM# 301008; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fetal anomalies v0.1352 CNBP Zornitza Stark reviewed gene: CNBP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Myotonic dystrophy 2, MIM# 602668; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1343 CLMP Zornitza Stark reviewed gene: CLMP: Rating: GREEN; Mode of pathogenicity: None; Publications: 22155368; Phenotypes: Congenital short bowel syndrome , MIM#615237; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1343 CIT Zornitza Stark Marked gene: CIT as ready
Fetal anomalies v0.1343 CIT Zornitza Stark Gene: cit has been classified as Green List (High Evidence).
Fetal anomalies v0.1343 CIT Zornitza Stark Publications for gene: CIT were set to
Fetal anomalies v0.1342 CIT Zornitza Stark Classified gene: CIT as Green List (high evidence)
Fetal anomalies v0.1342 CIT Zornitza Stark Gene: cit has been classified as Green List (High Evidence).
Fetal anomalies v0.1305 ADSL Zornitza Stark reviewed gene: ADSL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Adenylosuccinase deficiency, MIM# 103050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1296 EYA1 Belinda Chong reviewed gene: EYA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9359046, 13269867, 263442; Phenotypes: Anterior segment anomalies with or without cataract MIM#602588, Branchiootic syndrome 1 MIM#602588, Branchiootorenal syndrome 1, with or without cataracts MIM#113650; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v0.1285 FGF8 Zornitza Stark reviewed gene: FGF8: Rating: GREEN; Mode of pathogenicity: None; Publications: 27363716, 29584859; Phenotypes: Holoprosencephaly, MONDO:0016296; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1283 FKBP14 Zornitza Stark reviewed gene: FKBP14: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ehlers-Danlos syndrome, kyphoscoliotic type, 2, MIM# 614557; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1276 EXOSC3 Belinda Chong reviewed gene: EXOSC3: Rating: GREEN; Mode of pathogenicity: None; Publications: 22544365, 25149867, 23284067, 24524299; Phenotypes: Pontocerebellar hypoplasia, type 1B 614678; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.1273 ERCC8 Belinda Chong reviewed gene: ERCC8: Rating: GREEN; Mode of pathogenicity: None; Publications: 14661080, 21108394; Phenotypes: Cockayne syndrome, type A, MIM# 216400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.1271 NPR2 Zornitza Stark Mode of pathogenicity for gene: NPR2 was changed from to Other
Fetal anomalies v0.1264 GALK1 Zornitza Stark reviewed gene: GALK1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Galactokinase deficiency with cataracts MIM#230200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1264 ERCC6 Belinda Chong reviewed gene: ERCC6: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301516, 20456449, 9443879, 8566949; Phenotypes: Cockayne syndrome, type B, MIM#133540, Cerebrooculofacioskeletal syndrome 1, MIM#214150, De Sanctis-Cacchione syndrome, MIM#278800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.1262 GALNS Zornitza Stark reviewed gene: GALNS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mucopolysaccharidosis IVA, MIM# 253000, MONDO:0009659; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1241 FAT4 Ain Roesley reviewed gene: FAT4: Rating: GREEN; Mode of pathogenicity: None; Publications: 29681106; Phenotypes: Hennekam lymphangiectasia-lymphedema syndrome 2 MIM#616006, Van Maldergem syndrome 2 MIM#615546; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.1241 FBXL4 Ain Roesley reviewed gene: FBXL4: Rating: GREEN; Mode of pathogenicity: None; Publications: 28940506; Phenotypes: Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) MIM#615471; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.1241 ERCC3 Belinda Chong reviewed gene: ERCC3: Rating: GREEN; Mode of pathogenicity: None; Publications: 2167179, 10447254, 16947863, 9012405, 32557569, 27004399; Phenotypes: Xeroderma pigmentosum, group B 61, MIM#0651, Trichothiodystrophy 2, photosensitive, MIM# 616390; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.1241 FGF8 Ain Roesley reviewed gene: FGF8: Rating: AMBER; Mode of pathogenicity: None; Publications: 20301509; Phenotypes: Hypogonadotropic hypogonadism 6 with or without anosmia MIM#612702; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v0.1241 FKBP14 Ain Roesley reviewed gene: FKBP14: Rating: AMBER; Mode of pathogenicity: None; Publications: 22265013, 24773188, 27149304, 31132235, 30561154, 28617417; Phenotypes: Ehlers-Danlos syndrome, kyphoscoliotic type, 2, MIM# 614557; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.1241 FOXE1 Ain Roesley reviewed gene: FOXE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9697705, 12165566, 16882747, 24219130, 20484477; Phenotypes: Bamforth-Lazarus syndrome, MIM# 241850, MONDO:0009437; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.1241 FOXF1 Ain Roesley reviewed gene: FOXF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19500772, 23505205; Phenotypes: Alveolar capillary dysplasia with misalignment of pulmonary veins, MIM# 265380; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v0.1241 FOXG1 Ain Roesley reviewed gene: FOXG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28661489; Phenotypes: Rett syndrome, congenital variant MIM#613454; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v0.1241 FOXRED1 Ain Roesley reviewed gene: FOXRED1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33613441; Phenotypes: Mitochondrial complex I deficiency, nuclear type 19 MIM#618241; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.1241 FREM2 Ain Roesley reviewed gene: FREM2: Rating: GREEN; Mode of pathogenicity: None; Publications: 15838507, 18203166, 29688405, 33082983; Phenotypes: Cryptophthalmos, unilateral or bilateral, isolated MIM#123570, Fraser syndrome 2 MIM#617666; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.1240 GAA Ain Roesley reviewed gene: GAA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Glycogen storage disease II MIM#232300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.1240 NPR2 Daniel Flanagan reviewed gene: NPR2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 15146390, 31990356, 30602027, 24001744, 24057292; Phenotypes: Acromesomelic dysplasia 1, Maroteaux type (MIM#602875), Epiphyseal chondrodysplasia, Miura type (MIM#615923), Short stature with nonspecific skeletal abnormalities (MIM#616255); Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Fetal anomalies v0.1240 GALE Ain Roesley reviewed gene: GALE: Rating: GREEN; Mode of pathogenicity: None; Publications: 21290786; Phenotypes: Galactose epimerase deficiency MIM#230350; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.1240 GALK1 Ain Roesley reviewed gene: GALK1: Rating: RED; Mode of pathogenicity: None; Publications: 27604308, 5129682; Phenotypes: Galactokinase deficiency with cataracts MIM#230200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.1240 GALNS Ain Roesley reviewed gene: GALNS: Rating: GREEN; Mode of pathogenicity: None; Publications: 9298823; Phenotypes: Mucopolysaccharidosis IVA, MIM# 253000, MONDO:0009659; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.1240 GATA4 Ain Roesley reviewed gene: GATA4: Rating: GREEN; Mode of pathogenicity: None; Publications: 12845333, 18055909, 15689439, 33413087, 30455927; Phenotypes: Atrial septal defect 2 MIM#607941, Atrioventricular septal defect 4 MIM#614430, Ventricular septal defect 1 MIM#614429; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v0.1240 NPHS1 Daniel Flanagan reviewed gene: NPHS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 10577936, 17413422; Phenotypes: Nephrotic syndrome, type 1 (MIM#256300); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1240 NPC1 Daniel Flanagan reviewed gene: NPC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12408188, 12408188; Phenotypes: Niemann-Pick disease, type C1/ type D (MIM#257220); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1240 NOTCH2 Daniel Flanagan reviewed gene: NOTCH2: Rating: GREEN; Mode of pathogenicity: None; Publications: 16773578, 21378985, 21378989; Phenotypes: Alagille syndrome 2 (MIM#610205), Hajdu-Cheney syndrome (MIM#102500); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1240 GCDH Ain Roesley reviewed gene: GCDH: Rating: GREEN; Mode of pathogenicity: None; Publications: 31536184; Phenotypes: Glutaricaciduria, type I MIM#231670; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.1240 NOTCH1 Daniel Flanagan reviewed gene: NOTCH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25963545, 25132448; Phenotypes: Adams-Oliver syndrome 5 (MIM#616028); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1240 NOG Daniel Flanagan reviewed gene: NOG: Rating: AMBER; Mode of pathogenicity: None; Publications: 11846737, 18440889, 12089654, 10080184, 15066478, 22088931, 17381491; Phenotypes: Brachydactyly, type B2 (MIM#611377), Multiple synostoses syndrome 1 (MIM#186500), Stapes ankylosis with broad thumbs and toes (MIM#184460), Symphalangism, proximal, 1A (MIM#185800), Tarsal-carpal coalition syndrome (MIM#186570); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1240 NKX3-2 Daniel Flanagan reviewed gene: NKX3-2: Rating: GREEN; Mode of pathogenicity: None; Publications: 20004766, 29704686; Phenotypes: Spondylo-megaepiphyseal-metaphyseal dysplasia (MIM#613330); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1226 CHRNB2 Zornitza Stark reviewed gene: CHRNB2: Rating: RED; Mode of pathogenicity: None; Publications: 11062464, 11104662, 19153075, 32536355, 25770198, 23032131; Phenotypes: Epilepsy, nocturnal frontal lobe, 3 605375; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1223 CHRNB1 Zornitza Stark reviewed gene: CHRNB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 8872460, 8651643, 27375219, 32504635, 10562302; Phenotypes: Myasthenic syndrome, slow-channel congenital, 601462 Myasthenic syndrome, congenital, 2A, slow-channel, 616313, Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, 616314; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.1220 CHRNA3 Zornitza Stark reviewed gene: CHRNA3: Rating: GREEN; Mode of pathogenicity: None; Publications: 31708116; Phenotypes: Bladder dysfunction, autonomic, with impaired pupillary reflex and secondary CAKUT, MIM# 191800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1211 CHD8 Zornitza Stark reviewed gene: CHD8: Rating: RED; Mode of pathogenicity: None; Publications: 31980904; Phenotypes: {Autism, susceptibility to, 18} 615032, CHD8-related neurodevelopmental syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1206 CFL2 Zornitza Stark reviewed gene: CFL2: Rating: RED; Mode of pathogenicity: None; Publications: 17160903, 22560515, 32697999, 29457652, 24610938; Phenotypes: Nemaline myopathy 7, autosomal recessive, MIM# 610687; Mode of inheritance: None
Fetal anomalies v0.1203 CERS3 Zornitza Stark reviewed gene: CERS3: Rating: RED; Mode of pathogenicity: None; Publications: 23754960, 23549421, 31168818, 30578701; Phenotypes: Ichthyosis, congenital, autosomal recessive 9, MIM# 615023; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1193 CENPF Zornitza Stark reviewed gene: CENPF: Rating: GREEN; Mode of pathogenicity: None; Publications: 25564561, 28407396, 26820108; Phenotypes: Stromme syndrome (MIM#243605); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1189 CELSR1 Zornitza Stark reviewed gene: CELSR1: Rating: RED; Mode of pathogenicity: None; Publications: 31215153, 31403174, 26855770; Phenotypes: Lymphatic malformation 9, MIM# 619319; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1180 CD151 Zornitza Stark reviewed gene: CD151: Rating: RED; Mode of pathogenicity: None; Publications: 15265795, 29138120; Phenotypes: Nephropathy with pretibial epidermolysis bullosa and deafness, MIM#609057; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1169 CCDC22 Zornitza Stark reviewed gene: CCDC22: Rating: ; Mode of pathogenicity: None; Publications: 21826058, 24916641, 34020006, 33059814, 31971710; Phenotypes: Ritscher-Schinzel syndrome 2, MIM# 300963; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v0.1165 CASR Zornitza Stark reviewed gene: CASR: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hyperparathyroidism, neonatal, MIM# 239200; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.1150 CAMK2A Zornitza Stark reviewed gene: CAMK2A: Rating: RED; Mode of pathogenicity: None; Publications: 32600977, 29784083, 29560374; Phenotypes: Mental retardation, autosomal recessive 63 MIM#618095, Mental retardation, autosomal dominant 53 MIM#617798; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Fetal anomalies v0.1149 CACNA1G Zornitza Stark Mode of pathogenicity for gene: CACNA1G was changed from to Other
Fetal anomalies v0.1145 CACNA1D Zornitza Stark Mode of pathogenicity for gene: CACNA1D was changed from to Other
Fetal anomalies v0.1139 CACNA1A Zornitza Stark reviewed gene: CACNA1A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Developemental and epileptic encephalopathy 42, MIM# 617106 Episodic ataxia, type 2, MIM# 108500 Migraine, familial hemiplegic, 1, MIM# 141500 Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia 141500 Spinocerebellar ataxia 6, MIM# 183086; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1128 C1QBP Zornitza Stark reviewed gene: C1QBP: Rating: GREEN; Mode of pathogenicity: None; Publications: 28942965; Phenotypes: Combined oxidative phosphorylation deficiency 33, MIM# 617713; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1121 BOLA3 Zornitza Stark reviewed gene: BOLA3: Rating: AMBER; Mode of pathogenicity: None; Publications: 30302924, 29654549, 30302924; Phenotypes: Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia, MIM# 614299; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1117 BNC2 Zornitza Stark reviewed gene: BNC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31656805, 31051115; Phenotypes: Lower urinary tract obstruction, congenital, MIM #618612; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1114 BLOC1S6 Zornitza Stark reviewed gene: BLOC1S6: Rating: RED; Mode of pathogenicity: None; Publications: 22461475, 21665000, 32245340; Phenotypes: Hermansky-Pudlak syndrome 9, MIM# 614171; Mode of inheritance: None
Fetal anomalies v0.1109 BANF1 Zornitza Stark reviewed gene: BANF1: Rating: RED; Mode of pathogenicity: None; Publications: 32783369, 21549337; Phenotypes: Nestor-Guillermo progeria syndrome, MIM# 614008; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1088 DYRK1A Zornitza Stark reviewed gene: DYRK1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 25707398; Phenotypes: Mental retardation, autosomal dominant 7, MIM# 614104; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1074 DOLK Zornitza Stark Mode of pathogenicity for gene: DOLK was changed from Other to None
Fetal anomalies v0.1058 ERCC2 Zornitza Stark reviewed gene: ERCC2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cerebrooculofacioskeletal syndrome 2, MIM# 610756, MONDO:0012553; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1051 NFIX Zornitza Stark reviewed gene: NFIX: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Marshall-Smith syndrome, MIM# 602535; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1044 GJA3 Zornitza Stark reviewed gene: GJA3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cataract 14, multiple types MIM#601885; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1042 WNT4 Zornitza Stark reviewed gene: WNT4: Rating: AMBER; Mode of pathogenicity: None; Publications: 22503279, 21377155, 16959810, 18179883; Phenotypes: Mullerian aplasia and hyperandrogenism (MIM#158330), SERKAL syndrome, OMIM #611812; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1039 WWOX Zornitza Stark reviewed gene: WWOX: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental and epileptic encephalopathy 28, MIM# 616211; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1036 ZNF750 Zornitza Stark reviewed gene: ZNF750: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Seborrhea-like dermatitis with psoriasiform elements, MIM# 610227; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1033 GDF6 Zornitza Stark Mode of pathogenicity for gene: GDF6 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Fetal anomalies v0.1029 GJC2 Zornitza Stark reviewed gene: GJC2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Leukodystrophy, hypomyelinating, 2 MIM#608804; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.990 GLUL Zornitza Stark reviewed gene: GLUL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Glutamine deficiency, congenital MIM#610015; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.985 BRWD1 Zornitza Stark reviewed gene: BRWD1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Situs inversus, primary ciliary dyskinesia like; Mode of inheritance: None
Fetal anomalies v0.979 MYH9 Zornitza Stark reviewed gene: MYH9: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.978 BCAS3 Zornitza Stark gene: BCAS3 was added
gene: BCAS3 was added to Fetal anomalies. Sources: Expert Review
Mode of inheritance for gene: BCAS3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BCAS3 were set to 34022130
Phenotypes for gene: BCAS3 were set to Hengel-Maroofian-Schols syndrome, MIM# 619641
Review for gene: BCAS3 was set to GREEN
Added comment: 15 individuals from eight unrelated families with germline bi-allelic loss-of-function variants in BCAS3. All probands share a global developmental delay accompanied by pyramidal tract involvement, microcephaly, short stature, strabismus, dysmorphic facial features, and seizures. Patient fibroblasts confirmed absence of BCAS3 protein. All patients had hyperreflexia, spasticity.

Microcephaly and CC abnormalities may be detectable antenatally.
Sources: Expert Review
Fetal anomalies v0.977 ERCC2 Belinda Chong reviewed gene: ERCC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 7849702 9758621 11443545 33733458; Phenotypes: Cerebrooculofacioskeletal syndrome 2, MIM# 610756, MONDO:0012553, Trichothiodystrophy 1, photosensitive, MIM# 601675, MONDO:0011125, Xeroderma pigmentosum, group D, MIM# 278730, MONDO:0010212; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.975 ATR Zornitza Stark reviewed gene: ATR: Rating: GREEN; Mode of pathogenicity: None; Publications: 12640452, 19620979, 30199583, 23111928; Phenotypes: Seckel syndrome 1, MIM# 210600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.971 ATP6V1B2 Zornitza Stark reviewed gene: ATP6V1B2: Rating: AMBER; Mode of pathogenicity: None; Publications: 25915598, 24913193, 28396750; Phenotypes: Zimmermann-Laband syndrome 2, MIM# 616455, Deafness, congenital, with onychodystrophy, autosomal dominant, MIM# 124480; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.968 ASXL3 Zornitza Stark reviewed gene: ASXL3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Bainbridge-Ropers syndrome (OMIM # 615485); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.968 GDF6 Ain Roesley reviewed gene: GDF6: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 30733656, 29130651, 26643732; Phenotypes: Multiple synostoses syndrome 4 (MIM#617898); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v0.965 ASXL2 Zornitza Stark reviewed gene: ASXL2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27693232, 33751773; Phenotypes: Shashi-Pena syndrome, MIM# 617190; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.964 ASPH Zornitza Stark reviewed gene: ASPH: Rating: AMBER; Mode of pathogenicity: None; Publications: 24768550, 30194805, 34018898; Phenotypes: Traboulsi syndrome , MIM#601552; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.960 GFAP Ain Roesley reviewed gene: GFAP: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301351; Phenotypes: Alexander disease MIM#203450; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v0.957 ARHGAP29 Zornitza Stark reviewed gene: ARHGAP29: Rating: GREEN; Mode of pathogenicity: None; Publications: 27350171, 23008150; Phenotypes: Cleft palate, cleft lip; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.957 NFIX Daniel Flanagan reviewed gene: NFIX: Rating: GREEN; Mode of pathogenicity: None; Publications: 33034087, 29897170, 30548146, 25118028; Phenotypes: Sotos syndrome 2 (MIM#614753); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.957 NEU1 Daniel Flanagan reviewed gene: NEU1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11063730, 11829139, 14695530; Phenotypes: Sialidosis, type I, type II (MIM#256550); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.957 GFM1 Ain Roesley reviewed gene: GFM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31680380, 25852744, 26937387; Phenotypes: Combined oxidative phosphorylation deficiency 1 MIM#609060; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.957 NECTIN4 Daniel Flanagan reviewed gene: NECTIN4: Rating: GREEN; Mode of pathogenicity: None; Publications: 24577405, 20691405, 25529316; Phenotypes: Ectodermal dysplasia-syndactyly syndrome 1 (MIM#613573); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.957 GJA3 Ain Roesley reviewed gene: GJA3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cataract 14, multiple types MIM#601885; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v0.957 EPHB4 Belinda Chong reviewed gene: EPHB4: Rating: GREEN; Mode of pathogenicity: None; Publications: 27400125, 28687708, 29444212, 29905864, 30578106, 30819650; Phenotypes: Capillary malformation-arteriovenous malformation 2 (MIM#618196), AD, Lymphatic malformation 7 (MIM#617300), AD; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v0.957 GJC2 Ain Roesley reviewed gene: GJC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 19056803, 31431325, 25059390; Phenotypes: Spastic paraplegia 44, autosomal recessive MIM#613206, Leukodystrophy, hypomyelinating, 2 MIM#608804; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.957 GLA Ain Roesley reviewed gene: GLA: Rating: RED; Mode of pathogenicity: None; Publications: 20301469; Phenotypes: Fabry disease MIM#301500, Fabry disease, cardiac variant MIM#301500; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes
Fetal anomalies v0.957 NBAS Daniel Flanagan reviewed gene: NBAS: Rating: GREEN; Mode of pathogenicity: None; Publications: 20577004, 27789416, 29955634, 26073778; Phenotypes: Short stature, optic nerve atrophy, and Pelger-Huet anomaly (MIM#614800), bone fragility, developmental delay, immunodeficiency, autism; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.957 BRWD1 Krithika Murali reviewed gene: BRWD1: Rating: AMBER; Mode of pathogenicity: None; Publications: 33389130; Phenotypes: Situs inversus, primary ciliary dyskinesia like; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.957 GLB1 Ain Roesley reviewed gene: GLB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24156116; Phenotypes: GM1-gangliosidosis, type I MIM#230500, GM1-gangliosidosis, type II MIM# 230600, GM1-gangliosidosis, type III MIM#230650, Mucopolysaccharidosis type IVB (Morquio) MIM#253010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.957 GLDC Ain Roesley reviewed gene: GLDC: Rating: AMBER; Mode of pathogenicity: None; Publications: 27604308, 2246863, 1634607; Phenotypes: Glycine encephalopathy (MIM#605899); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.957 GLI2 Ain Roesley reviewed gene: GLI2: Rating: GREEN; Mode of pathogenicity: None; Publications: 14581620, 17096318, 33235745, 27585885, 15994174, 20685856, 30629636, 30583238; Phenotypes: Culler-Jones syndrome, MIM#615849, Holoprosencephaly 9, MIM# 61082); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v0.957 EP300 Belinda Chong reviewed gene: EP300: Rating: GREEN; Mode of pathogenicity: None; Publications: 29506490, 29460469; Phenotypes: Rubinstein-Taybi syndrome 2, MIM# 613684, Menke-Hennekam syndrome , MIM#2 618333; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v0.957 NANS Daniel Flanagan reviewed gene: NANS: Rating: GREEN; Mode of pathogenicity: None; Publications: 27213289; Phenotypes: Spondyloepimetaphyseal dysplasia, Camera-Genevieve type (MIM#610442); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.957 NALCN Daniel Flanagan reviewed gene: NALCN: Rating: GREEN; Mode of pathogenicity: None; Publications: 25683120, 23749988, 24075186; Phenotypes: Congenital contractures of the limbs and face, hypotonia, and developmental delay (MIM#616266), Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 (MIM#615419); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.957 GLUL Ain Roesley reviewed gene: GLUL: Rating: AMBER; Mode of pathogenicity: None; Publications: 16267323, 21353613, 33150193; Phenotypes: Glutamine deficiency, congenital MIM#610015; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.957 GNAI3 Ain Roesley reviewed gene: GNAI3: Rating: GREEN; Mode of pathogenicity: None; Publications: 22560091; Phenotypes: Auriculocondylar syndrome 1, OMIM #602483; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v0.957 NAGA Daniel Flanagan reviewed gene: NAGA: Rating: GREEN; Mode of pathogenicity: None; Publications: 11313741, 31468281, 15619430, 8782044; Phenotypes: Kanzaki disease (MIM# 609242), Schindler disease, type I and type II (MIM#609241), alpha-N-acetylgalactosaminidase deficiency (MONDO:0017779); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.957 GNPAT Ain Roesley reviewed gene: GNPAT: Rating: GREEN; Mode of pathogenicity: None; Publications: 9536089, 11152660, 21990100; Phenotypes: Rhizomelic chondrodysplasia punctata, type 2, MIM# 222765, MONDO:0009112; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.955 ARFGEF2 Zornitza Stark reviewed gene: ARFGEF2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25160555, 26126837, 23812912; Phenotypes: Periventricular heterotopia with microcephaly (MIM#608097); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.952 AP4S1 Zornitza Stark changed review comment from: Spastic quadriplegia-52 is an autosomal recessive neurodevelopmental disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity and severe mental retardation with poor or absent speech development. More than 10 families reported and a zebrafish model.; to: Spastic quadriplegia-52 is an autosomal recessive neurodevelopmental disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity and severe ID with poor or absent speech development. More than 10 families reported and a zebrafish model.

Microcephaly is a feature.
Fetal anomalies v0.949 AP4M1 Zornitza Stark changed review comment from: Spastic paraplegia-50 is an autosomal recessive neurodevelopmental disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity and severe intellectual disability with poor or absent speech development. More than 5 unrelated families reported.; to: Spastic paraplegia-50 is an autosomal recessive neurodevelopmental disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity and severe intellectual disability with poor or absent speech development. More than 5 unrelated families reported.

Microcephaly and ventriculomegaly are features.
Fetal anomalies v0.946 AP4B1 Zornitza Stark changed review comment from: Spastic paraplegia-47 is an autosomal recessive neurodegenerative disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity and severe intellectual disability with poor or absent speech development. More than 10 unrelated families reported.; to: Spastic paraplegia-47 is an autosomal recessive neurodegenerative disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity and severe intellectual disability with poor or absent speech development. More than 10 unrelated families reported.

Microcephaly and ventriculomegaly are features.
Fetal anomalies v0.944 MYH9 Daniel Flanagan reviewed gene: MYH9: Rating: AMBER; Mode of pathogenicity: None; Publications: 9390828, 24890873, 17146397, 25505834, 16630581, 16162639, 23976996, 21908426; Phenotypes: Deafness, autosomal dominant 17 (MIM#603622), Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MIM#155100); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.942 ANTXR2 Zornitza Stark reviewed gene: ANTXR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 12973667, 14508707; Phenotypes: Hyaline fibromatosis syndrome, MIM# 228600, MONDO:0009229; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.935 ANKRD26 Zornitza Stark reviewed gene: ANKRD26: Rating: RED; Mode of pathogenicity: None; Publications: 21211618; Phenotypes: Thrombocytopaenia 2, MIM# 188000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.935 WNT4 Chloe Stutterd reviewed gene: WNT4: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 16959810, 15317892, 18182450; Phenotypes: 158330; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.935 WWOX Chloe Stutterd reviewed gene: WWOX: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33916893; Phenotypes: 616211; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.935 ZNF750 Chloe Stutterd reviewed gene: ZNF750: Rating: RED; Mode of pathogenicity: None; Publications: Smit, C., Bütow, K. W., Naidoo, S., & Olorunju, S. (2019). Identification of Possible Maternal Risk Factors for Development of Syndromic Oro-Facial Clefts. Clinical Neurology and Neuroscience, 3(3), 58.; Phenotypes: 610227; Mode of inheritance: None
Fetal anomalies v0.928 TBC1D32 Zornitza Stark reviewed gene: TBC1D32: Rating: GREEN; Mode of pathogenicity: None; Publications: 24285566, 32573025, 32060556, 31130284; Phenotypes: Orofacial digital syndrome type IX; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.923 CSF1R Zornitza Stark gene: CSF1R was added
gene: CSF1R was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: CSF1R was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CSF1R were set to 30982609; 33749994; 34135456
Phenotypes for gene: CSF1R were set to Brain abnormalities, neurodegeneration, and dysosteosclerosis, MIM# 618476; BANDDOS
Review for gene: CSF1R was set to GREEN
Added comment: Brain abnormalities, neurodegeneration, and dysosteosclerosis (BANDDOS) is an autosomal recessive disorder characterized by brain abnormalities, progressive neurologic deterioration, and sclerotic bone dysplasia similar to dysosteosclerosis (DOS). The age at onset is highly variable: some patients may present in infancy with hydrocephalus, global developmental delay, and hypotonia, whereas others may have onset of symptoms in the late teens or early twenties after normal development. Neurologic features include loss of previous motor and language skills, cognitive impairment, spasticity, and focal seizures. Brain imaging shows periventricular white matter abnormalities and calcifications, large cisterna magna or Dandy-Walker malformation, and sometimes agenesis of the corpus callosum.

Four unrelated families reported.

Note mono-allelic variants cause an adult-onset disorder.
Sources: Literature
Fetal anomalies v0.908 SMARCE1 Zornitza Stark reviewed gene: SMARCE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22426308, 23906836, 23929686; Phenotypes: Coffin-Siris syndrome 5, MIM# 616938; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.903 TAB2 Zornitza Stark reviewed gene: TAB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 34456334; Phenotypes: Mitral valve disease, cardiomyopathy, short stature and hypermobility, Noonan syndrome-like, Congenital heart defects, nonsyndromic, 2 (MIM#614980); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.902 ZFPM2 Zornitza Stark reviewed gene: ZFPM2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Diaphragmatic hernia 3 - MIM#610187, Tetralogy of Fallot - MIM# 187500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.886 MMP9 Zornitza Stark reviewed gene: MMP9: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Metaphyseal anadysplasia 2 - MIM# 613073; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.886 TNFRSF11A Krithika Murali reviewed gene: TNFRSF11A: Rating: GREEN; Mode of pathogenicity: None; Publications: 18606301, 32048120; Phenotypes: Osteopetrosis, autosomal recessive 7 - MIM# 612301; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.874 DMPK Zornitza Stark Mode of pathogenicity for gene: DMPK was changed from to Other
Fetal anomalies v0.857 EMD Zornitza Stark reviewed gene: EMD: Rating: RED; Mode of pathogenicity: None; Publications: 20301609; Phenotypes: Emery-Dreifuss muscular dystrophy 1, X-linked 310300; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v0.855 EMD Belinda Chong reviewed gene: EMD: Rating: ; Mode of pathogenicity: None; Publications: 21697856, 31802929; Phenotypes: Emery-Dreifuss muscular dystrophy 1, X-linked 310300; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Fetal anomalies v0.853 GTPBP3 Zornitza Stark reviewed gene: GTPBP3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency 23 MIM#616198; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.842 AMMECR1 Zornitza Stark reviewed gene: AMMECR1: Rating: RED; Mode of pathogenicity: None; Publications: 27811305, 28089922, 29193635; Phenotypes: Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis, MIM# 300990; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v0.841 AMBRA1 Zornitza Stark reviewed gene: AMBRA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17589504, 32333458; Phenotypes: Neural tube defects; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.838 AMACR Zornitza Stark reviewed gene: AMACR: Rating: RED; Mode of pathogenicity: None; Publications: 31951345, 24735479, 12512044, 10655068; Phenotypes: Bile acid synthesis defect, congenital, 4, MIM# 214950; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.836 GNPTAB Ain Roesley reviewed gene: GNPTAB: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301728; Phenotypes: Mucolipidosis II alpha/beta MIM#252500, Mucolipidosis III alpha/beta MIM#252600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.836 ALOXE3 Zornitza Stark reviewed gene: ALOXE3: Rating: AMBER; Mode of pathogenicity: None; Publications: 16116617, 31046801, 26370990; Phenotypes: Ichthyosis, congenital, autosomal recessive 3, MIM# 606545; Mode of inheritance: None
Fetal anomalies v0.834 ALOX12B Zornitza Stark reviewed gene: ALOX12B: Rating: AMBER; Mode of pathogenicity: None; Publications: 16116617, 11773004; Phenotypes: Ichthyosis, congenital, autosomal recessive 2, MIM# 242100; Mode of inheritance: None
Fetal anomalies v0.823 GNS Ain Roesley reviewed gene: GNS: Rating: GREEN; Mode of pathogenicity: None; Publications: 12573255, 12624138, 31536183, 25851924; Phenotypes: Mucopolysaccharidosis type IIID, MIM# 252940, Sanfilippo syndrome type D, MONDO:0009658; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.823 GRHL3 Ain Roesley reviewed gene: GRHL3: Rating: GREEN; Mode of pathogenicity: None; Publications: 24360809, 29500247; Phenotypes: Van der Woude syndrome 2 MIM#606713; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v0.823 GRIP1 Ain Roesley reviewed gene: GRIP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27859469, 31982235; Phenotypes: Fraser syndrome 3 MIM#617667; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.823 GTPBP3 Ain Roesley reviewed gene: GTPBP3: Rating: AMBER; Mode of pathogenicity: None; Publications: 34276756, 25434004; Phenotypes: Combined oxidative phosphorylation deficiency 23 MIM#616198; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.822 NADSYN1 Zornitza Stark reviewed gene: NADSYN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31883644; Phenotypes: Multiple congenital abnormalities, absent kidneys, cardiac, limb, vertebral; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.818 AKT2 Zornitza Stark Mode of pathogenicity for gene: AKT2 was changed from to Other
Fetal anomalies v0.816 AKT2 Zornitza Stark reviewed gene: AKT2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 21979934; Phenotypes: Hypoinsulinemic hypoglycemia with hemihypertrophy, MIM# 240900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.813 AIMP1 Zornitza Stark changed review comment from: Autosomal recessive hypomyelinating leukodystrophy-3 (HLD3) is a severe neurologic disorder characterized by early infantile onset of global developmental delay, lack of development, lack of speech acquisition, and peripheral spasticity associated with decreased myelination in the central nervous system. Abnormal nerve conduction demonstrated. More than 10 families reported.

Note two families reported in PMID 26173967 primarily with ID phenotype without neurodegeneration/leukodystrophy, suggesting there is a spectrum of severity. Note both families had homozygous missense variants.; to: Autosomal recessive hypomyelinating leukodystrophy-3 (HLD3) is a severe neurologic disorder characterized by early infantile onset of global developmental delay, lack of development, lack of speech acquisition, and peripheral spasticity associated with decreased myelination in the central nervous system. Abnormal nerve conduction demonstrated. More than 10 families reported.

Note two families reported in PMID 26173967 primarily with ID phenotype without neurodegeneration/leukodystrophy, suggesting there is a spectrum of severity. Note both families had homozygous missense variants.

Progressive disorder, typical onset is in the first few months of life, microcephaly and joint contractures are features.
Fetal anomalies v0.812 AIFM1 Zornitza Stark reviewed gene: AIFM1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency 6, MIM# 300816, Cowchock syndrome, MIM# 310490, Deafness, X-linked 5, MIM# 300614, Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy, MIM# 300232; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v0.799 ACVR1 Zornitza Stark reviewed gene: ACVR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 16642017; Phenotypes: Fibrodysplasia ossificans progressiva, MIM# 135100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.797 ELOVL4 Zornitza Stark reviewed gene: ELOVL4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ichthyosis, spastic quadriplegia, and mental retardation MIM#614457; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.792 MYH11 Zornitza Stark Mode of pathogenicity for gene: MYH11 was changed from to Other
Fetal anomalies v0.774 ELOVL4 Belinda Chong reviewed gene: ELOVL4: Rating: GREEN; Mode of pathogenicity: None; Publications: 24566826, 26258735, 30065956, 22100072, 24571530, 33652762, 10634627, 8002834; Phenotypes: Ichthyosis, spastic quadriplegia, and mental retardation MIM#614457, Spinocerebellar ataxia 34 MIM#133190, Stargardt disease 3 MIM#600110; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.771 ELN Belinda Chong reviewed gene: ELN: Rating: GREEN; Mode of pathogenicity: None; Publications: 27866049 31560829 19844261 19844261; Phenotypes: Cutis laxa 123700, Supravalvar aortic stenosis 185500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Fetal anomalies v0.769 ACO2 Zornitza Stark reviewed gene: ACO2: Rating: AMBER; Mode of pathogenicity: None; Publications: 22405087, 25351951, 30689204, 32519519; Phenotypes: Infantile cerebellar-retinal degeneration, MIM# 614559; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.766 MYH8 Daniel Flanagan reviewed gene: MYH8: Rating: GREEN; Mode of pathogenicity: None; Publications: 20949528, 17041932, 15282353; Phenotypes: Trismus-pseudocamptodactyly syndrome (MIM#158300); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.766 MYH11 Daniel Flanagan reviewed gene: MYH11: Rating: GREEN; Mode of pathogenicity: Other; Publications: 31944481, 30071989, 16444274, 17666408, 27081537; Phenotypes: Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 (MIM#619351); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.766 MYH10 Daniel Flanagan reviewed gene: MYH10: Rating: GREEN; Mode of pathogenicity: None; Publications: 24825879, 24901346, 25356899, 22495309, 25003005; Phenotypes: Microcephaly, Hip dysplasia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.766 MYCN Daniel Flanagan reviewed gene: MYCN: Rating: GREEN; Mode of pathogenicity: None; Publications: 18470948; Phenotypes: Feingold syndrome 1 (MIM#164280); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.761 MSX2 Daniel Flanagan reviewed gene: MSX2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23949913, 27884935, 23918290, 2359311, 22948472, 19533795, 10742103, 14571277; Phenotypes: Craniosynostosis 2 (MIM#604757), Parietal foramina 1 (MIM#168500), Parietal foramina with cleidocranial dysplasia (MIM#168550); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.761 MSX1 Daniel Flanagan reviewed gene: MSX1: Rating: GREEN; Mode of pathogenicity: None; Publications: 10742093, 12807959; Phenotypes: Orofacial cleft 5 (MIM#608874); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.761 MRPS22 Daniel Flanagan reviewed gene: MRPS22: Rating: GREEN; Mode of pathogenicity: None; Publications: 21189481, 17873122, 25663021; Phenotypes: Combined oxidative phosphorylation deficiency 5 (MIM#611719); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.761 MOCS2 Daniel Flanagan reviewed gene: MOCS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 10053004, 31848698, 16021469, 30900395; Phenotypes: Molybdenum cofactor deficiency B (MIM#252160); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.761 DARS Zornitza Stark changed review comment from: Onset typically in infancy with lower limb spasticity. Brain MRI shows extensive white matter abnormalities involving the supratentorial white matter, brainstem, cerebellar peduncles, and dorsal columns and lateral corticospinal tracts of the spinal cord. However, two individuals with adolescent onset described in 25527264, mimicking steroid-responsive neuroinflammatory disorder. HGNC approved name DARS1.; to: Onset typically in infancy with lower limb spasticity. Brain MRI shows extensive white matter abnormalities involving the supratentorial white matter, brainstem, cerebellar peduncles, and dorsal columns and lateral corticospinal tracts of the spinal cord.

HGNC approved name DARS1.
Fetal anomalies v0.761 DARS Zornitza Stark Phenotypes for gene: DARS were changed from HYPOMYELINATION WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY. to Hypomyelination with brainstem and spinal cord involvement and leg spasticity, MIM# 615281
Fetal anomalies v0.756 DAG1 Zornitza Stark reviewed gene: DAG1: Rating: AMBER; Mode of pathogenicity: None; Publications: 25934851, 24052401; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9 (MIM#616538); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.753 CYP21A2 Zornitza Stark reviewed gene: CYP21A2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, MIM# 201910; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.750 CYP1B1 Zornitza Stark reviewed gene: CYP1B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32499604, 32224865; Phenotypes: Anterior segment dysgenesis 6, multiple subtypes, MIM# 617315, Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset, MIM# 231300; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.748 CYP17A1 Zornitza Stark reviewed gene: CYP17A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 2843762, 14671162, 2026124; Phenotypes: 17-alpha-hydroxylase/17,20-lyase deficiency, MIM# 202110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.745 CYP11B1 Zornitza Stark reviewed gene: CYP11B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 8768848; Phenotypes: Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, MIM# 202010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.743 CYP11A1 Zornitza Stark reviewed gene: CYP11A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12161514, 16705068, 18182448; Phenotypes: Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, MIM# 613743; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.741 CWC27 Zornitza Stark reviewed gene: CWC27: Rating: GREEN; Mode of pathogenicity: None; Publications: 28285769, 31481716; Phenotypes: Retinitis pigmentosa with or without skeletal anomalies, MIM# 250410; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.739 CUL7 Zornitza Stark reviewed gene: CUL7: Rating: GREEN; Mode of pathogenicity: None; Publications: 16142236, 19225462, 17675530; Phenotypes: 3-M syndrome 1, MIM# 273750, Yakut short stature syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.737 PPIB Naomi Baker reviewed gene: PPIB: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 19781681, 32392875; Phenotypes: Osteogenesis imperfecta, type IX, MIM# 259440; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.735 ELAC2 Belinda Chong reviewed gene: ELAC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23849775, 31045291; Phenotypes: Combined oxidative phosphorylation deficiency 17 MIM#615440; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.733 CUL4B Zornitza Stark reviewed gene: CUL4B: Rating: GREEN; Mode of pathogenicity: None; Publications: 17236139, 19377476; Phenotypes: Mental retardation, X-linked, syndromic 15 (Cabezas type), MIM# 300354; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v0.732 CTSK Zornitza Stark reviewed gene: CTSK: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pycnodysostosis, MIM# 265800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.730 CTSD Zornitza Stark reviewed gene: CTSD: Rating: GREEN; Mode of pathogenicity: None; Publications: 1558577; Phenotypes: Ceroid lipofuscinosis, neuronal, 10, MIM# 610127; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.728 CTSA Zornitza Stark reviewed gene: CTSA: Rating: GREEN; Mode of pathogenicity: None; Publications: 7759227; Phenotypes: Galactosialidosis, MIM# 256540; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.725 CTNNB1 Zornitza Stark reviewed gene: CTNNB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23033978, 24614104, 25326669, 27915094; Phenotypes: Neurodevelopmental disorder with spastic diplegia and visual defects , MIM#615075; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.723 CTCF Zornitza Stark reviewed gene: CTCF: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mental retardation, autosomal dominant 21 (MIM#615502); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.720 CTC1 Zornitza Stark edited their review of gene: CTC1: Added comment: Cerebroretinal microangiopathy with calcifications and cysts (CRMCC), also known as Coats plus syndrome, is an autosomal recessive pleomorphic disorder characterized primarily by intracranial calcifications, leukodystrophy, and brain cysts, resulting in spasticity, ataxia, dystonia, seizures, and cognitive decline. Patients also have retinal telangiectasia and exudates (Coats disease) as well as extraneurologic manifestations, including osteopenia with poor bone healing and a high risk of gastrointestinal bleeding and portal hypertension caused by vasculature ectasias in the stomach, small intestine, and liver. Some individuals also have hair, skin, and nail changes, as well as anaemia and thrombocytopaenia.

Multiple families reported.; Changed rating: GREEN; Changed publications: 22267198
Fetal anomalies v0.715 CSNK2A1 Zornitza Stark reviewed gene: CSNK2A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27048600, 29240241, 29383814; Phenotypes: Okur-Chung neurodevelopmental syndrome, MIM# 617062; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.712 CRYGD Zornitza Stark reviewed gene: CRYGD: Rating: GREEN; Mode of pathogenicity: None; Publications: 9927684, 10915766, 12676897, 17724170; Phenotypes: Cataract 4, multiple types, MIM# 115700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.709 CRYGC Zornitza Stark reviewed gene: CRYGC: Rating: GREEN; Mode of pathogenicity: None; Publications: 10521291, 10914683, 12011157, 19204787, 22052681; Phenotypes: Cataract 2, multiple types, MIM# 604307; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.706 CRYBB3 Zornitza Stark reviewed gene: CRYBB3: Rating: GREEN; Mode of pathogenicity: None; Publications: 15914629, 23508780, 34356085, 33594837, 33510601; Phenotypes: Cataract 22, MIM# 609741; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.703 CRYBB2 Zornitza Stark reviewed gene: CRYBB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 9158139, 10634616, 11424921, 17234267; Phenotypes: Cataract 3, multiple types, MIM# 601547; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.701 CRYBB1 Zornitza Stark reviewed gene: CRYBB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12360425, 16110300, 17460281, 21972112; Phenotypes: Cataract 17, multiple types, MIM# 611544; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.698 CRYBA4 Zornitza Stark reviewed gene: CRYBA4: Rating: GREEN; Mode of pathogenicity: None; Publications: 16960806, 16960806, 20577656; Phenotypes: Cataract 23, MIM# 610425; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.698 CRYBA1 Zornitza Stark Phenotypes for gene: CRYBA1 were changed from CATARACT CONGENITAL ZONULAR WITH SUTURAL OPACITIES to Cataract 10, multiple types, MIM# 600881
Fetal anomalies v0.695 CRYBA1 Zornitza Stark reviewed gene: CRYBA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9788845, 14598164, 34419537, 33827296, 31488069; Phenotypes: Cataract 10, multiple types, MIM# 600881; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.693 CRYAA Zornitza Stark reviewed gene: CRYAA: Rating: GREEN; Mode of pathogenicity: None; Publications: 9467006, 11006246, 16735993, 17724170, 23255486; Phenotypes: Cataract 9, multiple types, MIM# 604219; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.689 EIF2AK3 Zornitza Stark reviewed gene: EIF2AK3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.689 EIF2AK3 Belinda Chong reviewed gene: EIF2AK3: Rating: AMBER; Mode of pathogenicity: None; Publications: 10932183, 7551159, 16813601; Phenotypes: Wolcott-Rallison syndrome MIM#226980; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.684 EDA Zornitza Stark reviewed gene: EDA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.684 EDNRA Belinda Chong reviewed gene: EDNRA: Rating: GREEN; Mode of pathogenicity: None; Publications: 25772936, 27671791; Phenotypes: Mandibulofacial dysostosis with alopecia, MIM# 616367; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v0.684 EDA Belinda Chong reviewed gene: EDA: Rating: AMBER; Mode of pathogenicity: None; Publications: 29694819, 19921643, 18510547, 9507389; Phenotypes: Ectodermal dysplasia 1, hypohidrotic, X-linked, MIM# 305100, MONDO:0010585; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Fetal anomalies v0.667 UNC50 Zornitza Stark reviewed gene: UNC50: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.665 TOR1AIP1 Zornitza Stark reviewed gene: TOR1AIP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.662 ORAI1 Zornitza Stark reviewed gene: ORAI1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.660 MYLPF Zornitza Stark reviewed gene: MYLPF: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.660 DVL3 Belinda Chong reviewed gene: DVL3: Rating: GREEN; Mode of pathogenicity: None; Publications: 26924530; Phenotypes: Robinow syndrome, autosomal dominant 3 MIM#616894; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v0.655 PARN Zornitza Stark reviewed gene: PARN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.653 MMP13 Zornitza Stark Mode of pathogenicity for gene: MMP13 was changed from to Other
Fetal anomalies v0.645 KIF22 Zornitza Stark reviewed gene: KIF22: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.643 PRF1 Krithika Murali gene: PRF1 was added
gene: PRF1 was added to Fetal anomalies. Sources: Expert list,Literature
Mode of inheritance for gene: PRF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PRF1 were set to 19595804; 26199792; 30070073
Phenotypes for gene: PRF1 were set to Aplastic anemia - #609135; Hemophagocytic lymphohistiocytosis, familial, 2 - #603553
Review for gene: PRF1 was set to GREEN
Added comment: Heeg et al report 12 patients presenting with FHLH2 in utero or in first 10 days of life from registry and publication data (these 12 genetically confirmed)
PMID: 19595804

Vermulen et al report two siblings with homozygous PRF1 variants, first sib died in utero with hydrops and second sib presented in neonatal period
PMID: 26199792

Iwatani et al report newborn infant with comp het PRF1 variants, and in utero ascites
PMID: 30070073
Sources: Expert list, Literature
Fetal anomalies v0.641 KIF22 Zornitza Stark Mode of pathogenicity for gene: KIF22 was changed from to Other
Fetal anomalies v0.614 MEGF10 Zornitza Stark reviewed gene: MEGF10: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.612 UNC50 Krithika Murali reviewed gene: UNC50: Rating: ; Mode of pathogenicity: None; Publications: 29016857, 33820833; Phenotypes: Arthrogryposis multiplex congenita; Mode of inheritance: None
Fetal anomalies v0.612 PAX2 Dean Phelan reviewed gene: PAX2: Rating: AMBER; Mode of pathogenicity: None; Publications: 21654726, 24676634, 31060108, 32203253; Phenotypes: Papillorenal syndrome, Renal coloboma syndrome, ventricular septal defect, skeletal deformity, ovarian teratoma, growth retardation, gout, microcephaly, developmental disorder, gonadal abnormalities; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.612 SCYL2 Krithika Murali gene: SCYL2 was added
gene: SCYL2 was added to Fetal anomalies. Sources: Expert list,Literature
Mode of inheritance for gene: SCYL2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SCYL2 were set to 31960134; 26203146
Phenotypes for gene: SCYL2 were set to Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum - #618766
Review for gene: SCYL2 was set to AMBER
Added comment: 2 unrelated consanguineous families reported with AMC (PMID: 31960134).
Constitutive mouse knockout of Scyl2 results in neonatal lethality and severe motor and sensory deficits (PMID: 26203146).
Sources: Expert list, Literature
Fetal anomalies v0.610 PARN Dean Phelan reviewed gene: PARN: Rating: GREEN; Mode of pathogenicity: None; Publications: 25893599, 26342108, 25848748; Phenotypes: Dyskeratosis congenita, autosomal recessive 6, MIM# 616353, Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, MIM# 616371; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.603 CPT2 Zornitza Stark reviewed gene: CPT2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: CPT II deficiency, lethal neonatal, MIM# 608836; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.597 COQ4 Zornitza Stark reviewed gene: COQ4: Rating: GREEN; Mode of pathogenicity: None; Publications: 25658047, 26185144, 33704555; Phenotypes: Coenzyme Q10 deficiency, primary, 7, MIM# 616276; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.595 COLEC11 Zornitza Stark reviewed gene: COLEC11: Rating: GREEN; Mode of pathogenicity: None; Publications: 21258343, 26789649, 28301481; Phenotypes: 3MC syndrome 2, MIM# 265050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.592 COL9A2 Zornitza Stark reviewed gene: COL9A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 21671392, 31090205, 33356723; Phenotypes: Stickler syndrome, type V, MIM# 614284; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.589 COL9A1 Zornitza Stark reviewed gene: COL9A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 16909383, 21421862, 31090205; Phenotypes: Stickler syndrome, type IV, MIM# 614134; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.587 COL6A3 Zornitza Stark reviewed gene: COL6A3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Bethlem myopathy 1, MIM# 158810, Ullrich congenital muscular dystrophy 1, MIM# 254090; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.586 COL6A2 Zornitza Stark reviewed gene: COL6A2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Bethlem myopathy 1, MIM# 158810, Ullrich congenital muscular dystrophy 1, MIM# 254090; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.584 COL6A1 Zornitza Stark reviewed gene: COL6A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Bethlem myopathy 1, MIM# 158810, Ullrich congenital muscular dystrophy 1, MIM# 254090; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.584 MMP13 Daniel Flanagan reviewed gene: MMP13: Rating: GREEN; Mode of pathogenicity: Other; Publications: 19615667, 24781753, 24648384; Phenotypes: Metaphyseal anadysplasia 1 (MIM#602111), Metaphyseal dysplasia, Spahr type (MIM#250400), ?Spondyloepimetaphyseal dysplasia, Missouri type (MIM#602111); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.582 DVL1 Belinda Chong reviewed gene: DVL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25817014, 25817016; Phenotypes: Robinow syndrome, autosomal dominant 2 (MIM#616331); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed); Current diagnostic: yes
Fetal anomalies v0.582 KRIT1 Ain Roesley reviewed gene: KRIT1: Rating: RED; Mode of pathogenicity: None; Publications: 34556564, 20301470; Phenotypes: Cavernous malformations of CNS and retina MIM#116860, Cerebral cavernous malformations-1 MIM#116860, Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations MIM#116860; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v0.582 KLF1 Ain Roesley reviewed gene: KLF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29300242, 25724378, 28265383; Phenotypes: Blood group--Lutheran inhibitor MIM#111150, Dyserythropoietic anemia, congenital, type IV MIM#613673; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v0.582 KIF22 Ain Roesley reviewed gene: KIF22: Rating: GREEN; Mode of pathogenicity: Other; Publications: 25256152, 22152677, 22152678; Phenotypes: Spondyloepimetaphyseal dysplasia with joint laxity, type 2 MIM#603546; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v0.582 MMADHC Daniel Flanagan reviewed gene: MMADHC: Rating: RED; Mode of pathogenicity: None; Publications: 18385497; Phenotypes: Methylmalonic aciduria, cblD type, variant 2 (MIM#277410), Methylmalonic aciduria and homocystinuria, cblD type (MIM#277410), Methylmalonic aciduria, cblD type, variant 2 (MIM#277410); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.582 KIAA1109 Ain Roesley reviewed gene: KIAA1109: Rating: ; Mode of pathogenicity: None; Publications: 29290337, 30906834; Phenotypes: Alkuraya-Kucinskas syndrome MIM#617822; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.582 KCTD1 Ain Roesley reviewed gene: KCTD1: Rating: RED; Mode of pathogenicity: None; Publications: 23541344, 31324836; Phenotypes: Scalp-ear-nipple syndrome MIM#181270; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v0.582 MMACHC Daniel Flanagan reviewed gene: MMACHC: Rating: GREEN; Mode of pathogenicity: None; Publications: 20631720, 16311595; Phenotypes: Methylmalonic aciduria and homocystinuria, cblC type, (MIM#277400); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.582 KCNJ2 Ain Roesley reviewed gene: KCNJ2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 20301441; Phenotypes: Andersen syndrome MIM#170390, Atrial fibrillation, familial, 9 MIM#613980, Short QT syndrome 3 MIM#609622; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v0.582 MLC1 Daniel Flanagan reviewed gene: MLC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11254442, 18757878, 16652334; Phenotypes: Megalencephalic leukoencephalopathy with subcortical cysts (MIM#604004); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.582 MID1 Daniel Flanagan reviewed gene: MID1: Rating: GREEN; Mode of pathogenicity: None; Publications: 1103076, 9354791; Phenotypes: Opitz GBBB syndrome, type I (MIM#300000); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v0.582 KAT6B Ain Roesley reviewed gene: KAT6B: Rating: GREEN; Mode of pathogenicity: None; Publications: 22715153; Phenotypes: SBBYSS syndrome MIM#603736, Genitopatellar syndrome MIM#606170; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v0.582 KAT6A Ain Roesley reviewed gene: KAT6A: Rating: GREEN; Mode of pathogenicity: None; Publications: 30245513; Phenotypes: Arboleda-Tham syndrome MIM#616268; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v0.582 MESP2 Daniel Flanagan reviewed gene: MESP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 18485326; Phenotypes: Spondylocostal dysostosis 2, autosomal recessive (MIM#608681); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.582 MEGF10 Daniel Flanagan reviewed gene: MEGF10: Rating: AMBER; Mode of pathogenicity: None; Publications: 22101682, 22371254, 30802937; Phenotypes: Myopathy, areflexia, respiratory distress, and dysphagia, early-onset (MIM#614399), Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant (MIM#614399); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.582 MBTPS2 Daniel Flanagan reviewed gene: MBTPS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27380894, 19361614, 21426410; Phenotypes: Osteogenesis imperfecta, type XIX, (MIM301014), IFAP syndrome with or without BRESHECK syndrome (MIM#308205), Keratosis follicularis spinulosa decalvans, X-linked (MIM#308800), ?Olmsted syndrome, X-linked (MIM#300918); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fetal anomalies v0.581 COL4A3BP Zornitza Stark reviewed gene: COL4A3BP: Rating: AMBER; Mode of pathogenicity: None; Publications: 25533962; Phenotypes: Mental retardation, autosomal dominant 34, MIM# 616351; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.578 COL4A2 Zornitza Stark reviewed gene: COL4A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22209246; Phenotypes: Brain small vessel disease 2, MIM# 614483; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.573 COL3A1 Zornitza Stark reviewed gene: COL3A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28742248, 19455184, 25205403; Phenotypes: Polymicrogyria with or without vascular-type ehlers-danlos syndrome, MIM # 618343, Ehlers-Danlos syndrome, vascular type, MIM# 130050; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.572 COL2A1 Zornitza Stark reviewed gene: COL2A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Collagenopathy type 2 alpha 1, MONDO:0022800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.566 COL11A2 Zornitza Stark reviewed gene: COL11A2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fibrochondrogenesis 2, MIM# 614524, Otospondylomegaepiphyseal dysplasia, autosomal recessive, MIM# 215150; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.565 COL11A1 Zornitza Stark reviewed gene: COL11A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fibrochondrogenesis 1, MIM# 228520, Marshall syndrome, MIM# 154780; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.562 COL10A1 Zornitza Stark reviewed gene: COL10A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15880705, 31633898; Phenotypes: Metaphyseal chondrodysplasia, Schmid type, MIM#156500; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.549 ETHE1 Zornitza Stark reviewed gene: ETHE1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ethylmalonic encephalopathy, MIM# 602473; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.546 MEIS2 Zornitza Stark reviewed gene: MEIS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33427397, 25712757; Phenotypes: Cleft palate, cardiac defects, and mental retardation (MIM#600987); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.542 DSTYK Zornitza Stark reviewed gene: DSTYK: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.540 DSP Zornitza Stark reviewed gene: DSP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.535 DSTYK Belinda Chong reviewed gene: DSTYK: Rating: AMBER; Mode of pathogenicity: None; Publications: 28157540,23862974; Phenotypes: Spastic paraplegia 23, MIM# 270750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.535 DSP Belinda Chong reviewed gene: DSP: Rating: GREEN; Mode of pathogenicity: None; Publications: 16467215,23137101,26604139, 22795705,31983221,24108106,16175511,20302578,20613772; Phenotypes: Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, MIM# 615821, Cardiomyopathy, dilated, with woolly hair and keratoderma, MIM# 605676; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.530 CNTNAP2 Zornitza Stark reviewed gene: CNTNAP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 16571880, 19896112, 27439707]; Phenotypes: Cortical dysplasia-focal epilepsy syndrome, MIM# 610042; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.519 CLCN7 Zornitza Stark reviewed gene: CLCN7: Rating: GREEN; Mode of pathogenicity: None; Publications: 31155284; Phenotypes: Hypopigmentation, organomegaly, and delayed myelination and development, MIM# 618541, Osteopetrosis, autosomal recessive 4, MIM# 611490; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.517 DNMT3B Zornitza Stark reviewed gene: DNMT3B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.517 DNMT3B Belinda Chong reviewed gene: DNMT3B: Rating: GREEN; Mode of pathogenicity: None; Publications: 11837609, 17893117,10647011,23486536; Phenotypes: Immunodeficiency-centromeric instability-facial anomalies syndrome 1, MIM# 242860; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.515 CKAP2L Zornitza Stark reviewed gene: CKAP2L: Rating: GREEN; Mode of pathogenicity: None; Publications: 25439729, 33913579, 29473684; Phenotypes: Filippi syndrome, MIM# 272440; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.511 CHUK Zornitza Stark reviewed gene: CHUK: Rating: AMBER; Mode of pathogenicity: None; Publications: 25691407, 20961246, 10195895, 10195896, 29523099, 28513979; Phenotypes: Popliteal pterygium syndrome, Bartsocas-Papas type 2, MIM# 619339, Cocoon syndrome, MIM# 613630, AEC-like syndrome; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.482 P3H1 Dean Phelan reviewed gene: P3H1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27864101, 33737016, 17277775, 19088120; Phenotypes: Osteogenesis imperfecta; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.476 IFITM5 Ain Roesley edited their review of gene: IFITM5: Added comment: Comment on mode of pathogenicity: LoF not established, alternative neomorph/GoF postulated but not yet conclusively proven; Changed mode of pathogenicity: Other
Fetal anomalies v0.464 IFIH1 Zornitza Stark Mode of pathogenicity for gene: IFIH1 was changed from Other to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Fetal anomalies v0.462 IFIH1 Zornitza Stark reviewed gene: IFIH1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.458 IDS Zornitza Stark reviewed gene: IDS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mucopolysaccharidosis II MIM#309900, MONDO:0010674, Hunter syndrome; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v0.448 ITGB4 Ain Roesley reviewed gene: ITGB4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Epidermolysis bullosa, junctional, with pyloric atresia MIM#226730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.448 ITGA6 Ain Roesley reviewed gene: ITGA6: Rating: AMBER; Mode of pathogenicity: None; Publications: 31502654, 27607025, 9158140, 34525201; Phenotypes: Epidermolysis bullosa, junctional, with pyloric stenosis MIM#226730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.448 IRF6 Ain Roesley reviewed gene: IRF6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Popliteal pterygium syndrome 1MIM#119500, van der Woude syndrome MIM#119300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v0.448 INTU Ain Roesley reviewed gene: INTU: Rating: GREEN; Mode of pathogenicity: None; Publications: 27158779, 29451301, 20067783, 34623732; Phenotypes: Orofaciodigital syndrome XVII MIM#617926, Short-rib thoracic dysplasia 20 with polydactyly MIM#617925; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.448 INPPL1 Ain Roesley reviewed gene: INPPL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23273567, 34529350, 34094554; Phenotypes: Opsismodysplasia MIM#258480; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.448 IMPAD1 Ain Roesley reviewed gene: IMPAD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22887726, 21549340; Phenotypes: Chondrodysplasia with joint dislocations, GPAPP type MIM#614078; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.448 MATN3 Daniel Flanagan reviewed gene: MATN3: Rating: GREEN; Mode of pathogenicity: None; Publications: 31724101, 32025536, 11968079, 14729835; Phenotypes: Spondyloepimetaphyseal dysplasia, Borochowitz-Cormier-Daire type (MIM#608728), Epiphyseal dysplasia, multiple, 5 (MIM#607078); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.448 IL1RAPL1 Ain Roesley reviewed gene: IL1RAPL1: Rating: RED; Mode of pathogenicity: None; Publications: 34452636, 27470653, 21484992, 18801879, 18801879; Phenotypes: Intellectual developmental disorder, X-linked 21 MIM#300143; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Fetal anomalies v0.448 MAP3K1 Daniel Flanagan reviewed gene: MAP3K1: Rating: RED; Mode of pathogenicity: None; Publications: 21129722, 32986312; Phenotypes: 46XY sex reversal 6 (MIM#613762); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.448 IL11RA Ain Roesley reviewed gene: IL11RA: Rating: GREEN; Mode of pathogenicity: None; Publications: 21741611, 32277509, 30811827, 29926465, 24498618; Phenotypes: Craniosynostosis and dental anomalies, MIM# 614188; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.448 IHH Ain Roesley reviewed gene: IHH: Rating: GREEN; Mode of pathogenicity: None; Publications: 34530144, 12632327, 32311039, 29155992; Phenotypes: Acrocapitofemoral dysplasia MIM#607778, Brachydactyly, type A1 MIM#112500; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.448 MAFB Daniel Flanagan reviewed gene: MAFB: Rating: AMBER; Mode of pathogenicity: None; Publications: 23956186, 30208859; Phenotypes: Multicentric carpotarsal osteolysis syndrome (MIM#166300); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.448 IGHMBP2 Ain Roesley reviewed gene: IGHMBP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 14681881, 23560007, 30863264; Phenotypes: Neuronopathy, distal hereditary motor, type VI MIM#604320; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.448 IFITM5 Ain Roesley reviewed gene: IFITM5: Rating: GREEN; Mode of pathogenicity: None; Publications: 22863190, 22863195, 32383316, 24519609; Phenotypes: Osteogenesis imperfecta, type V MIM#610967; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v0.448 IFIH1 Ain Roesley reviewed gene: IFIH1: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 31898846, 28605144, 26284909, 28475458; Phenotypes: Aicardi-Goutieres syndrome 7 MIM#615846, SINGLETON-MERTEN SYNDROME 1 (MIM# 182250); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v0.446 CHKB Zornitza Stark reviewed gene: CHKB: Rating: GREEN; Mode of pathogenicity: None; Publications: 21665002, 23692895, 24997086; Phenotypes: Muscular dystrophy, congenital, megaconial type, MIM# 602541; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.440 CHAT Zornitza Stark reviewed gene: CHAT: Rating: GREEN; Mode of pathogenicity: None; Publications: 11172068, 12756141, 31192527, 29518833, 29189923; Phenotypes: Myasthenic syndrome, congenital, 6, presynaptic, 254210; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.437 CHAMP1 Zornitza Stark reviewed gene: CHAMP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27148580, 26340335; Phenotypes: Mental retardation, autosomal dominant 40 (MIM#616579); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.436 CFTR Zornitza Stark reviewed gene: CFTR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cystic fibrosis, MIM# 219700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.432 IDUA Ain Roesley reviewed gene: IDUA: Rating: GREEN; Mode of pathogenicity: None; Publications: 27928775; Phenotypes: Mucopolysaccharidosis Ih (MIM#607014), Mucopolysaccharidosis Ih/s (MIM#607015), Mucopolysaccharidosis Is (MIM#6070), Mucopolysaccharidosis type 1, MONDO:0001586; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.428 IDS Ain Roesley reviewed gene: IDS: Rating: GREEN; Mode of pathogenicity: None; Publications: 9921913, 9762601, 8940265, 1901826; Phenotypes: Mucopolysaccharidosis II MIM#309900, MONDO:0010674, Hunter syndrome; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Fetal anomalies v0.426 MAF Daniel Flanagan reviewed gene: MAF: Rating: GREEN; Mode of pathogenicity: None; Publications: 30160832, 34643041; Phenotypes: Ayme-Gripp syndrome (MIM#601088); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.426 LTBP4 Daniel Flanagan reviewed gene: LTBP4: Rating: GREEN; Mode of pathogenicity: None; Publications: 22829427; Phenotypes: Cutis laxa, autosomal recessive, type IC (MIM#613177); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.426 LTBP3 Daniel Flanagan reviewed gene: LTBP3: Rating: GREEN; Mode of pathogenicity: None; Publications: 19344874, 25899461, 25669657, 29625025, 27068007, 34150014; Phenotypes: Dental anomalies and short stature, MIM# 601216, Geleophysic dysplasia 3, MIM# 617809, Thoracic aneurysm; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.426 LRP4 Daniel Flanagan reviewed gene: LRP4: Rating: GREEN; Mode of pathogenicity: None; Publications: 23636941, 23664847, 30041615, 20381006; Phenotypes: Cenani-Lenz syndactyly syndrome (MIM#212780); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.413 CENPJ Zornitza Stark reviewed gene: CENPJ: Rating: GREEN; Mode of pathogenicity: None; Publications: 20522431, 23166506, 15793586, 20978018, 22775483, 32677750, 32549991; Phenotypes: Microcephaly 6, primary, autosomal recessive, MIM# 608393, Seckel syndrome 4, MIM# 613676; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.410 CDON Zornitza Stark reviewed gene: CDON: Rating: GREEN; Mode of pathogenicity: None; Publications: 21802063, 26529631, 26728615, 23071453; Phenotypes: Holoprosencephaly 11, MIM# 614226, MONDO:0013642; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.406 CDKL5 Zornitza Stark reviewed gene: CDKL5: Rating: GREEN; Mode of pathogenicity: None; Publications: 19793311; Phenotypes: Developmental and epileptic encephalopathy 2, MIM# 300672; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fetal anomalies v0.401 CDH3 Zornitza Stark reviewed gene: CDH3: Rating: GREEN; Mode of pathogenicity: None; Publications: 15805154, 22140374; Phenotypes: Ectodermal dysplasia, ectrodactyly, and macular dystrophy, MIM# 225280; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.398 CDH1 Zornitza Stark reviewed gene: CDH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28301459; Phenotypes: Blepharocheilodontic syndrome 1, MIM# 119580; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.393 CDC45 Zornitza Stark reviewed gene: CDC45: Rating: GREEN; Mode of pathogenicity: None; Publications: 31474763, 27374770; Phenotypes: Meier-Gorlin syndrome 7, MIM 617063; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.391 CDAN1 Zornitza Stark reviewed gene: CDAN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32518175; Phenotypes: Dyserythropoietic anemia, congenital, type Ia, 224120; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.389 CCND2 Zornitza Stark Mode of pathogenicity for gene: CCND2 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Fetal anomalies v0.388 CCND2 Zornitza Stark reviewed gene: CCND2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 MIM#615938; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.376 CBL Zornitza Stark Mode of pathogenicity for gene: CBL was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Fetal anomalies v0.374 CBL Zornitza Stark changed review comment from: Noonan syndrome-like disorder is a developmental disorder characterised by facial dysmorphism, a wide spectrum of cardiac disease, reduced growth, variable cognitive deficits, and ectodermal and musculoskeletal anomalies. Patients with heterozygous germline CBL mutations have an increased risk for certain malignancies, particularly juvenile myelomonocytic leukemia. Over 20 affected individuals reported.; to: Noonan syndrome-like disorder is a developmental disorder characterised by facial dysmorphism, a wide spectrum of cardiac disease, reduced growth, variable cognitive deficits, and ectodermal and musculoskeletal anomalies. Patients with heterozygous germline CBL mutations have an increased risk for certain malignancies, particularly juvenile myelomonocytic leukemia. Over 20 affected individuals reported.

Can present antenatally with hydrops or congenital heart disease.
Fetal anomalies v0.365 CACNA1C Zornitza Stark reviewed gene: CACNA1C: Rating: GREEN; Mode of pathogenicity: None; Publications: 15454078; Phenotypes: Timothy syndrome, MIM# 601005, Long QT syndrome 8, MIM# 618447; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.351 C12orf65 Zornitza Stark reviewed gene: C12orf65: Rating: RED; Mode of pathogenicity: None; Publications: 32478789; Phenotypes: Combined oxidative phosphorylation deficiency 7, MIM# 613559, Spastic paraplegia 55, autosomal recessive, MIM# 615035; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.348 BUB1B Zornitza Stark reviewed gene: BUB1B: Rating: GREEN; Mode of pathogenicity: None; Publications: 18548531; Phenotypes: Mosaic variegated aneuploidy syndrome 1, MIM# 257300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.346 BTD Zornitza Stark reviewed gene: BTD: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Biotinidase deficiency, MIM# 253260; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.336 BRAF Zornitza Stark Mode of pathogenicity for gene: BRAF was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Fetal anomalies v0.333 BMPR1B Zornitza Stark reviewed gene: BMPR1B: Rating: GREEN; Mode of pathogenicity: None; Publications: 15805157, 24129431, 26105076; Phenotypes: Acromesomelic dysplasia, Demirhan type, MIM# 609441; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.324 BMP2 Zornitza Stark reviewed gene: BMP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29198724; Phenotypes: Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1, MIM# 617877; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.322 BMP1 Zornitza Stark reviewed gene: BMP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25402547, 22052668, 22482805, 25214535; Phenotypes: Osteogenesis imperfecta, type XIII , MIM#614856; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.320 BLM Zornitza Stark reviewed gene: BLM: Rating: GREEN; Mode of pathogenicity: None; Publications: 17407155, 9285778, 7585968, 8079989, 12242442, 11101838; Phenotypes: Bloom Syndrome MIM# 210900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.314 BHLHA9 Zornitza Stark reviewed gene: BHLHA9: Rating: GREEN; Mode of pathogenicity: None; Publications: 25466284, 34272776, 31912643, 31152918, 30107244; Phenotypes: Syndactyly, mesoaxial synostotic, with phalangeal reduction, MIM# 609432; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.311 BGN Zornitza Stark reviewed gene: BGN: Rating: RED; Mode of pathogenicity: None; Publications: 27236923; Phenotypes: Spondyloepimetaphyseal dysplasia, X-linked, MIM# 300106; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v0.307 DLL4 Belinda Chong reviewed gene: DLL4: Rating: GREEN; Mode of pathogenicity: None; Publications: 26299364; Phenotypes: Adams-Oliver syndrome 6 MIM#616589; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v0.304 BFSP2 Zornitza Stark reviewed gene: BFSP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 10729115, 10739768, 15570218, 24654948, 21836522; Phenotypes: Cataract 12, multiple types, MIM# 611597; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.302 BCS1L Zornitza Stark reviewed gene: BCS1L: Rating: GREEN; Mode of pathogenicity: None; Publications: 26563427, 24172246, 17314340; Phenotypes: Bjornstad syndrome, MIM# 262000, Leigh syndrome, MIM# 256000, BCS1L-related mitochondrial disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.271 HNRNPK Zornitza Stark reviewed gene: HNRNPK: Rating: GREEN; Mode of pathogenicity: None; Publications: 29904177; Phenotypes: Au-Kline syndrome MIM#616580; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.264 ATAD1 Zornitza Stark reviewed gene: ATAD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hyperekplexia 4 - #618011; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.260 HSPD1 Zornitza Stark reviewed gene: HSPD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.255 SIK3 Zornitza Stark reviewed gene: SIK3: Rating: AMBER; Mode of pathogenicity: None; Publications: 30232230, 22318228; Phenotypes: Spondyloepimetaphyseal dysplasia, Krakow type - #618162; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.254 LIPA Zornitza Stark reviewed gene: LIPA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Wolman disease, MIM# 278000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.249 DKC1 Belinda Chong reviewed gene: DKC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31269755, 26951492, 29081935, 25940403; Phenotypes: Dyskeratosis congenita, X-linked MIM#305000; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Fetal anomalies v0.240 LIFR Zornitza Stark reviewed gene: LIFR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, MIM# 601559; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.236 HOXA1 Zornitza Stark reviewed gene: HOXA1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.225 LAMC3 Zornitza Stark reviewed gene: LAMC3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cortical malformations, occipital, MIM#614115; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.223 HIBCH Zornitza Stark reviewed gene: HIBCH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.219 HADHA Zornitza Stark reviewed gene: HADHA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.215 DIS3L2 Belinda Chong reviewed gene: DIS3L2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22306653, 28328139, 29950491; Phenotypes: Perlman syndrome MIM# 267000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.215 DHODH Belinda Chong reviewed gene: DHODH: Rating: GREEN; Mode of pathogenicity: None; Publications: 19915526, 20220176, 33262786, 27370710; Phenotypes: Miller syndrome, MIM# 263750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.213 DDX3X Belinda Chong reviewed gene: DDX3X: Rating: GREEN; Mode of pathogenicity: None; Publications: 33528536, 30936465, 31274575, 30817323; Phenotypes: Intellectual developmental disorder, X-linked, syndrome, Snijders Blok type MIM# 300958; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes
Fetal anomalies v0.211 SCN2A Seb Lunke reviewed gene: SCN2A: Rating: GREEN; Mode of pathogenicity: None; Publications: 28254201; Phenotypes: Developmental and epileptic encephalopathy 11, MIM#182390; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v0.208 ATP7A Zornitza Stark reviewed gene: ATP7A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Menkes disease, MIM# 309400; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v0.200 SC5D Seb Lunke reviewed gene: SC5D: Rating: GREEN; Mode of pathogenicity: None; Publications: 12189593, 17853487; Phenotypes: Lathosterolosis, MIM#607330; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.197 ASS1 Zornitza Stark Phenotypes for gene: ASS1 were changed from CITRULLINEMIA TYPE I to Citrullinemia, MIM# 215700
Fetal anomalies v0.195 ASS1 Zornitza Stark reviewed gene: ASS1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Citrullinemia, MIM# 215700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.192 ASPA Zornitza Stark reviewed gene: ASPA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Canavan disease, MIM# 271900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.187 ASAH1 Zornitza Stark reviewed gene: ASAH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11241842; Phenotypes: Farber lipogranulomatosis, MIM# 228000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.183 SAMHD1 Seb Lunke reviewed gene: SAMHD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21102625; Phenotypes: Aicardi-Goutieres syndrome 5, MIM#612952; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.177 ARSA Zornitza Stark reviewed gene: ARSA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Metachromatic leukodystrophy, MIM# 250100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.177 SAMD9 Seb Lunke reviewed gene: SAMD9: Rating: GREEN; Mode of pathogenicity: None; Publications: 27182967; Phenotypes: MIRAGE syndrome, MIM#617053; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v0.168 ARID1B Zornitza Stark reviewed gene: ARID1B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Coffin-Siris syndrome 1, MIM 135900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.165 ARID1A Zornitza Stark reviewed gene: ARID1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 23929686, 22426308, 25168959; Phenotypes: Coffin-Siris syndrome 2 (MIM#614607); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.158 HSPD1 Ain Roesley reviewed gene: HSPD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 18571143, 27405012, 32532876, 28377887, 27405012; Phenotypes: Leukodystrophy, hypomyelinating, 4, MIM# 612233; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.158 LIPA Daniel Flanagan reviewed gene: LIPA: Rating: AMBER; Mode of pathogenicity: None; Publications: 28374935, 11487567; Phenotypes: Wolman disease, MIM#278000, Cholesteryl ester storage disease, MIM#278000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.158 DCHS1 Belinda Chong reviewed gene: DCHS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27262615, 22473091, 24056717, 29046692; Phenotypes: Van Maldergem syndrome 1, MIM# 601390; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.158 HSF4 Ain Roesley reviewed gene: HSF4: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Cataract 5, multiple types MIM#116800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v0.154 ANTXR1 Zornitza Stark reviewed gene: ANTXR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23602711, 25045128, 31425299, 30575274, 29436111, 28870703; Phenotypes: GAPO syndrome, MIM# 230740; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.152 ANOS1 Zornitza Stark reviewed gene: ANOS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 1594017, 8504298, 8989261; Phenotypes: Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1), MIM# 308700; Mode of inheritance: None
Fetal anomalies v0.152 HSD17B3 Ain Roesley reviewed gene: HSD17B3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pseudohermaphroditism, male, with gynecomastia MIM#264300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.152 LIG4 Daniel Flanagan reviewed gene: LIG4: Rating: GREEN; Mode of pathogenicity: None; Publications: 32534991, 11779494, 16088910, 15333585, 20133615; Phenotypes: LIG4 syndrome, MIM#606593; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.152 HR Ain Roesley reviewed gene: HR: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Atrichia with papular lesions MIM#209500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.148 HPSE2 Ain Roesley reviewed gene: HPSE2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25145936, 23313374, 33558177; Phenotypes: Urofacial syndrome 1 MIM#236730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.145 ANAPC1 Zornitza Stark reviewed gene: ANAPC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31303264; Phenotypes: Rothmund-Thomson syndrome, type 1 618625; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.143 AMT Zornitza Stark reviewed gene: AMT: Rating: GREEN; Mode of pathogenicity: None; Publications: 8188235, 11592811; Phenotypes: Glycine encephalopathy, MIM# 605899; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.143 LIFR Daniel Flanagan reviewed gene: LIFR: Rating: GREEN; Mode of pathogenicity: None; Publications: 28334964; Phenotypes: Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, MIM#601559; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.143 HOXD13 Ain Roesley reviewed gene: HOXD13: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Brachydactyly, type D MIM#113200, Brachydactyly, type E MIM#113300, Syndactyly, type V MIM#186300, Synpolydactyly 1 MIM#186000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v0.143 HOXA1 Ain Roesley reviewed gene: HOXA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 16155570, 18412118, 32864817; Phenotypes: Athabaskan brainstem dysgenesis syndrome MIM#601536, Bosley-Salih-Alorainy syndrome MIM#601536; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.143 LHX4 Daniel Flanagan reviewed gene: LHX4: Rating: GREEN; Mode of pathogenicity: None; Publications: 11567216, 18445675, 27820671; Phenotypes: Pituitary hormone deficiency, combined, 4, MIM#262700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.143 HNRNPK Ain Roesley reviewed gene: HNRNPK: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Au-Kline syndrome MIM#616580; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v0.143 HNF4A Ain Roesley reviewed gene: HNF4A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young MIM#616026; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v0.141 ITGA3 Zornitza Stark reviewed gene: ITGA3: Rating: GREEN; Mode of pathogenicity: None; Publications: 22512483, 25810266, 27717396, 32198874, 26854491, 23114595, 30466509; Phenotypes: Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital, MIM# 614748; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.139 HNF1B Ain Roesley reviewed gene: HNF1B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Renal cysts and diabetes syndrome, MIM# 137920; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v0.139 LAMC3 Daniel Flanagan reviewed gene: LAMC3: Rating: AMBER; Mode of pathogenicity: None; Publications: 33639934, 21572413, 34354730; Phenotypes: Cortical malformations, occipital, MIM#614115; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.139 HIBCH Ain Roesley reviewed gene: HIBCH: Rating: GREEN; Mode of pathogenicity: None; Publications: 26026795, 25251209, 24299452, 32677093; Phenotypes: 3-hydroxyisobutryl-CoA hydrolase deficiency, MIM# 250620; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.139 HES7 Ain Roesley reviewed gene: HES7: Rating: GREEN; Mode of pathogenicity: None; Publications: 29459493, 23897666, 18775957, 20087400; Phenotypes: Spondylocostal dysostosis 4, autosomal recessive MIM#613686; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.139 HBA2 Ain Roesley reviewed gene: HBA2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Thalassemias, alpha- , MIM#604131, Heinz body anemias, alpha-, MIM# 140700, Erythrocytosis 7, MIM# 617981; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.139 HBA1 Ain Roesley reviewed gene: HBA1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Thalassemias, alpha- , MIM#604131, Heinz body anemias, alpha-, MIM# 140700, Erythrocytosis 7, MIM# 617981; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.139 HADHA Ain Roesley reviewed gene: HADHA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: LCHAD deficiency, MIM# 609016; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.139 HAAO Ain Roesley reviewed gene: HAAO: Rating: GREEN; Mode of pathogenicity: None; Publications: 28792876, 33942433; Phenotypes: Vertebral, cardiac, renal, and limb defects syndrome 1 MIM#617660; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.139 L2HGDH Daniel Flanagan reviewed gene: L2HGDH: Rating: RED; Mode of pathogenicity: None; Publications: 20052767; Phenotypes: L-2-hydroxyglutaric aciduria, MIM#236792; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.135 QRICH1 Zornitza Stark changed review comment from: Eight unrelated individuals reported with expressive speech delay, moderate motor delay, learning difficulties/ mild ID, mild microcephaly, short stature and notable social behaviour deficits as clinical hallmarks. One individual reported with nephroblastoma.; to: Eight unrelated individuals reported with expressive speech delay, moderate motor delay, learning difficulties/ mild ID, mild microcephaly, short stature and notable social behaviour deficits as clinical hallmarks. One individual reported with nephroblastoma.

IUGR rarely reported. Other features are unlikely to be detectable perinatally.
Fetal anomalies v0.126 AMER1 Zornitza Stark reviewed gene: AMER1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20209645, 19079258; Phenotypes: Osteopathia striata with cranial sclerosis, MIM# 300373; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fetal anomalies v0.102 ALG1 Zornitza Stark reviewed gene: ALG1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of glycosylation, type Ik, MIM# 608540; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.99 ADAR Zornitza Stark reviewed gene: ADAR: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Aicardi-Goutieres syndrome 6, MIM# 615010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.95 ALDH7A1 Zornitza Stark reviewed gene: ALDH7A1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Epilepsy, pyridoxine-dependent, MIM# 266100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.93 ALDH3A2 Zornitza Stark Phenotypes for gene: ALDH3A2 were changed from SJOEGREN-LARSSON SYNDROME to Sjogren-Larsson syndrome MIM#270200; spasticity; ichthyosis; intellectual disability
Fetal anomalies v0.81 ALDH18A1 Zornitza Stark reviewed gene: ALDH18A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cutis laxa, autosomal dominant 3, MIM# 616603, Cutis laxa, autosomal recessive, type IIIA, MIM# 219150; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Fetal anomalies v0.76 AKT1 Zornitza Stark Mode of pathogenicity for gene: AKT1 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Fetal anomalies v0.74 AKT1 Zornitza Stark reviewed gene: AKT1: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 23246288, 21793738; Phenotypes: Cowden syndrome 6, MIM#615109, Proteus syndrome, somatic, MIM# 176920; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.68 AHDC1 Zornitza Stark reviewed gene: AHDC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24791903, 27148574, 30152016; Phenotypes: Xia-Gibbs syndrome, MIM# 615829; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.65 AGT Zornitza Stark gene: AGT was added
gene: AGT was added to Fetal anomalies. Sources: Expert Review
Mode of inheritance for gene: AGT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AGT were set to 16116425; 34234805; 33163725
Phenotypes for gene: AGT were set to Renal tubular dysgenesis, MIM# 267430
Review for gene: AGT was set to GREEN
Added comment: Well established gene-disease association, more than 10 unrelated families reported. Autosomal recessive renal tubular dysgenesis is a severe disorder of renal tubular development characterized by persistent fetal anuria and perinatal death, probably due to pulmonary hypoplasia from early-onset oligohydramnios. Absence or paucity of differentiated proximal tubules is the histopathologic hallmark of the disorder and may be associated with skull ossification defects.
Sources: Expert Review
Fetal anomalies v0.61 AFF4 Zornitza Stark Mode of pathogenicity for gene: AFF4 was changed from to Other
Fetal anomalies v0.48 ADAMTS17 Zornitza Stark reviewed gene: ADAMTS17: Rating: GREEN; Mode of pathogenicity: None; Publications: 19836009, 22486325, 24940034; Phenotypes: Weill-Marchesani 4 syndrome, recessive, MIM# 613195; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.45 ACY1 Zornitza Stark reviewed gene: ACY1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Aminoacylase 1 deficiency, MIM# 609924; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.38 ACTG2 Zornitza Stark reviewed gene: ACTG2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24676022, 26647307; Phenotypes: Megacystis-microcolon-intestinal hypoperistalsis syndrome 5, MIM# 619431; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.33 ACTC1 Zornitza Stark reviewed gene: ACTC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31430208, 17947298; Phenotypes: Cardiomyopathy, hypertrophic, 11 612098, Atrial septal defect; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.31 ACOX1 Zornitza Stark reviewed gene: ACOX1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Peroxisomal acyl-CoA oxidase deficiency, MIM# 264470; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.29 ACE Zornitza Stark reviewed gene: ACE: Rating: GREEN; Mode of pathogenicity: None; Publications: 16116425, 22095942; Phenotypes: Renal tubular dysgenesis, MIM# 267430; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.28 ACADVL Zornitza Stark reviewed gene: ACADVL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: VLCAD deficiency, MIM# 201475; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.22 ACTA2 Krithika Murali reviewed gene: ACTA2: Rating: RED; Mode of pathogenicity: None; Publications: 17994018; Phenotypes: Aortic aneurysm, familial thoracic 6 - 611788; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.16 ACAD9 Zornitza Stark reviewed gene: ACAD9: Rating: GREEN; Mode of pathogenicity: None; Publications: 26475292; Phenotypes: Mitochondrial complex I deficiency, nuclear type 20, MIM# 611126; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.13 ABHD5 Zornitza Stark reviewed gene: ABHD5: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Chanarin-Dorfman syndrome, MIM# 275630; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.11 ABCC9 Zornitza Stark reviewed gene: ABCC9: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypertrichotic osteochondrodysplasia, MIM# 239850; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.10 ABCC6 Zornitza Stark reviewed gene: ABCC6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Arterial calcification, generalized, of infancy, 2, MIM# 614473; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.9 ABCA12 Zornitza Stark reviewed gene: ABCA12: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ichthyosis, congenital, autosomal recessive 4B (harlequin), MIM# 242500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.8 AAAS Zornitza Stark reviewed gene: AAAS: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Achalasia-addisonianism-alacrimia syndrome, MIM#231550; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.0 SLC25A15 Zornitza Stark gene: SLC25A15 was added
gene: SLC25A15 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: SLC25A15 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A15 were set to HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA SYNDROME
Fetal anomalies v0.0 H19 Zornitza Stark gene: H19 was added
gene: H19 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: H19 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: H19 were set to Beckwith-Wiedemann syndrome 130650; Silver-Russell syndrome 180860; Wilms tumor 2 194071
Mode of pathogenicity for gene: H19 was set to Other
Fetal anomalies v0.0 EPHX1 Zornitza Stark gene: EPHX1 was added
gene: EPHX1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: EPHX1 was set to Unknown
Phenotypes for gene: EPHX1 were set to Diphenylhydantoin toxicity; Hypercholanemia, familial; ?Fetal hydantoin syndrome
Fetal anomalies v0.0 TRAPPC12 Zornitza Stark gene: TRAPPC12 was added
gene: TRAPPC12 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: TRAPPC12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRAPPC12 were set to 28777934; 32347653
Phenotypes for gene: TRAPPC12 were set to Hydrocephaly; Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, OMIM:617669; Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome, MONDO:0044696
Fetal anomalies v0.0 TNNT3 Zornitza Stark gene: TNNT3 was added
gene: TNNT3 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: TNNT3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TNNT3 were set to 25337069; 32779773; 21402185; 17194691; 19142688
Phenotypes for gene: TNNT3 were set to Arthrogryposis, distal, type 2B2, OMIM:618435; Arthrogryposis, distal, type 2B2, MONDO:0032750
Mode of pathogenicity for gene: TNNT3 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Fetal anomalies v0.0 TMX2 Zornitza Stark gene: TMX2 was added
gene: TMX2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: TMX2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMX2 were set to 31586943; 31735293; 31270415
Phenotypes for gene: TMX2 were set to Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity, MONDO:0032887; Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity, OMIM:618730
Fetal anomalies v0.0 PXDN Zornitza Stark gene: PXDN was added
gene: PXDN was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: PXDN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PXDN were set to CONGENITAL CATARACT, CORNEAL OPACITY, AND DEVELOPMENTAL GLAUCOMA
Fetal anomalies v0.0 NOVA2 Zornitza Stark gene: NOVA2 was added
gene: NOVA2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: NOVA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: NOVA2 were set to Intellectual disability with ataxia/spasticity
Fetal anomalies v0.0 MN1 Zornitza Stark gene: MN1 was added
gene: MN1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: MN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MN1 were set to 31834374; 31839203; 15870292
Phenotypes for gene: MN1 were set to CEBALID syndrome, OMIM:618774; CEBALID syndrome, MONDO:0032908
Mode of pathogenicity for gene: MN1 was set to Other
Fetal anomalies v0.0 KCNJ8 Zornitza Stark gene: KCNJ8 was added
gene: KCNJ8 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: KCNJ8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KCNJ8 were set to 24700710; 25275207; 24176758
Phenotypes for gene: KCNJ8 were set to Cantu syndrome
Mode of pathogenicity for gene: KCNJ8 was set to Other - please provide details in the comments
Fetal anomalies v0.0 EMG1 Zornitza Stark gene: EMG1 was added
gene: EMG1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: EMG1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EMG1 were set to 19463982
Phenotypes for gene: EMG1 were set to Bowen-Conradi syndrome, 211180; Bowen-Conradi syndrome
Mode of pathogenicity for gene: EMG1 was set to Other
Fetal anomalies v0.0 CIT Zornitza Stark gene: CIT was added
gene: CIT was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: CIT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CIT were set to Microcephaly 17, primary, autosomal recessive, OMIM:617090; Microcephaly 17, primary, autosomal recessive, MONDO:0014908
Fetal anomalies v0.0 CACNA1G Zornitza Stark gene: CACNA1G was added
gene: CACNA1G was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: CACNA1G was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CACNA1G were set to Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits, 618087
Fetal anomalies v0.0 TWIST2 Zornitza Stark gene: TWIST2 was added
gene: TWIST2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: TWIST2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TWIST2 were set to 26119818
Phenotypes for gene: TWIST2 were set to Ablepharon-macrostomia syndrome, 200110; Barber-Say syndrome, 209885
Mode of pathogenicity for gene: TWIST2 was set to Other
Fetal anomalies v0.0 TUBB2A Zornitza Stark gene: TUBB2A was added
gene: TUBB2A was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: TUBB2A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TUBB2A were set to 28840640; 30016746; 25326637; 27770045; 24702957
Phenotypes for gene: TUBB2A were set to Cortical dysplasia, complex, with other brain malformations 5, OMIM:615763; Complex cortical dysplasia with other brain malformations 5, MONDO:0014337
Mode of pathogenicity for gene: TUBB2A was set to Other
Fetal anomalies v0.0 TRAF7 Zornitza Stark gene: TRAF7 was added
gene: TRAF7 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: TRAF7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TRAF7 were set to 29961569
Phenotypes for gene: TRAF7 were set to Developmental Delay, Congenital Anomalies, and Dysmorphic Features; Cardiac, facial, and digital anomalies with developmental delay, 618164
Mode of pathogenicity for gene: TRAF7 was set to Other - please provide details in the comments
Fetal anomalies v0.0 TPM2 Zornitza Stark gene: TPM2 was added
gene: TPM2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: TPM2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TPM2 were set to 12592607; 17339586
Phenotypes for gene: TPM2 were set to Arthrogryposis multiplex congenita, distal, type 1, 108120; Arthrogryposis, distal, type 2B, 601680; ARTHROGRYPOSIS, DISTAL, TYPE 1
Mode of pathogenicity for gene: TPM2 was set to Other
Fetal anomalies v0.0 SAMD9 Zornitza Stark gene: SAMD9 was added
gene: SAMD9 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: SAMD9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SAMD9 were set to 28346228; 27182967
Phenotypes for gene: SAMD9 were set to MIRAGE - myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, enteropathy
Mode of pathogenicity for gene: SAMD9 was set to Other
Fetal anomalies v0.0 MYT1 Zornitza Stark gene: MYT1 was added
gene: MYT1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: MYT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MYT1 were set to 28612832; 27358179
Phenotypes for gene: MYT1 were set to Oculo-auriculo-vertebral spectrum (OAVS); OAVS/Goldenhar syndrome
Mode of pathogenicity for gene: MYT1 was set to Other
Fetal anomalies v0.0 MFSD2A Zornitza Stark gene: MFSD2A was added
gene: MFSD2A was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: MFSD2A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MFSD2A were set to Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities, 616486
Fetal anomalies v0.0 KLF1 Zornitza Stark gene: KLF1 was added
gene: KLF1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: KLF1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: KLF1 were set to 28361594; 25724378
Phenotypes for gene: KLF1 were set to ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE IV; Hydrops Fetalis
Mode of pathogenicity for gene: KLF1 was set to Other
Fetal anomalies v0.0 IFIH1 Zornitza Stark gene: IFIH1 was added
gene: IFIH1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: IFIH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: IFIH1 were set to 25542954
Phenotypes for gene: IFIH1 were set to SINGLETON-MERTEN SYNDROME; Singleton-Merten syndrome 1, 182250; Aicardi-Goutieres syndrome 7, 615846; AICARDI-GOUTIERES SYNDROME 7
Mode of pathogenicity for gene: IFIH1 was set to Other
Fetal anomalies v0.0 GBA2 Zornitza Stark gene: GBA2 was added
gene: GBA2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: GBA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GBA2 were set to AUTOSOMAL-RECESSIVE CEREBELLAR ATAXIA WITH SPASTICITY.
Fetal anomalies v0.0 DOLK Zornitza Stark gene: DOLK was added
gene: DOLK was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: DOLK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DOLK were set to 28816422
Phenotypes for gene: DOLK were set to CONGENITAL DISORDERS OF GLYCOSYLATION
Mode of pathogenicity for gene: DOLK was set to Other
Fetal anomalies v0.0 DARS Zornitza Stark gene: DARS was added
gene: DARS was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: DARS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DARS were set to HYPOMYELINATION WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY.
Fetal anomalies v0.0 CRYBA1 Zornitza Stark gene: CRYBA1 was added
gene: CRYBA1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CRYBA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CRYBA1 were set to CATARACT CONGENITAL ZONULAR WITH SUTURAL OPACITIES
Fetal anomalies v0.0 CNOT1 Zornitza Stark gene: CNOT1 was added
gene: CNOT1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CNOT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CNOT1 were set to 31006513; 31006510
Phenotypes for gene: CNOT1 were set to Holoprosencephaly 12, with or without pancreatic agenesis, 618500
Mode of pathogenicity for gene: CNOT1 was set to Other - please provide details in the comments
Fetal anomalies v0.0 CACNA1E Zornitza Stark gene: CACNA1E was added
gene: CACNA1E was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CACNA1E was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CACNA1E were set to 30849329
Phenotypes for gene: CACNA1E were set to Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesia; Developmental and Epileptic Encephalopathy with Contractures Macrocephaly and Dyskinesias
Mode of pathogenicity for gene: CACNA1E was set to Other - please provide details in the comments
Fetal anomalies v0.0 BICD2 Zornitza Stark gene: BICD2 was added
gene: BICD2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: BICD2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: BICD2 were set to 27751653; 30054298; 29274205; 28635954
Phenotypes for gene: BICD2 were set to reduced fetal movements; PROXIMAL SPINAL MUSCULAR ATROPHY WITH AUTOSOMAL-DOMINANT INHERITANCE; Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant, 618291; arthrogryposis multiplex congenita (AMC); hydrops fetalis; Pterygium
Mode of pathogenicity for gene: BICD2 was set to Other
Fetal anomalies v0.0 ATAD3A Zornitza Stark gene: ATAD3A was added
gene: ATAD3A was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ATAD3A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ATAD3A were set to 33845882; 28549128; 28158749; 29053797; 32607449; 32004445; 33575671; 31727539; 28327206; 27640307
Phenotypes for gene: ATAD3A were set to ATAD3A disorder - global developmental delay, hypotonia, optic atrophy, axonal neuropathy, and hypertrophic cardiomyopathy; Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal, OMIM:618810; Harel-Yoon syndrome, OMIM:617183
Mode of pathogenicity for gene: ATAD3A was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Fetal anomalies v0.0 ASS1 Zornitza Stark gene: ASS1 was added
gene: ASS1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ASS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ASS1 were set to CITRULLINEMIA TYPE I
Fetal anomalies v0.0 AKT3 Zornitza Stark gene: AKT3 was added
gene: AKT3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: AKT3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: AKT3 were set to HEMIMEGALENCEPHALY AKT3
Mode of pathogenicity for gene: AKT3 was set to Other
Fetal anomalies v0.0 ACTG2 Zornitza Stark gene: ACTG2 was added
gene: ACTG2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ACTG2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ACTG2 were set to 31070878; 25998219; 30712878
Phenotypes for gene: ACTG2 were set to Fetal Megacystis; Visceral myopathy 155310
Mode of pathogenicity for gene: ACTG2 was set to Other