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Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.138 CELSR3 Zornitza Stark Marked gene: CELSR3 as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.138 CELSR3 Zornitza Stark Gene: celsr3 has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.138 CELSR3 Zornitza Stark Classified gene: CELSR3 as Green List (high evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.138 CELSR3 Zornitza Stark Gene: celsr3 has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.137 CELSR3 Zornitza Stark gene: CELSR3 was added
gene: CELSR3 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic. Sources: Literature
Mode of inheritance for gene: CELSR3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CELSR3 were set to 38429302
Phenotypes for gene: CELSR3 were set to Neurodevelopmental disorder (MONDO#0700092), CELSR3-related
Review for gene: CELSR3 was set to GREEN
Added comment: PMID: 38429302:12 affected individuals from 11 families reported with bi-allelic variants. Phenotype ranged from CNS anomalies (7/12), CNS and CAKUT (3/12) and CAKUT only (2/12). 8/12 has ID/DD. Only missense variants reported and 1 inframe variant. Functional studies done in zebrafish demonstrate similar structural anomalies of the developing pronephros and neuronal abnormalities to affected individuals.
Sources: Literature
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.136 CHD7 Zornitza Stark Marked gene: CHD7 as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.136 CHD7 Zornitza Stark Gene: chd7 has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.136 CHD7 Zornitza Stark Phenotypes for gene: CHD7 were changed from to CHARGE syndrome MIM#214800
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.135 CHD7 Zornitza Stark Mode of inheritance for gene: CHD7 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.134 CHD7 Zornitza Stark reviewed gene: CHD7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: CHARGE syndrome MIM#214800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.134 ACE Zornitza Stark Marked gene: ACE as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.134 ACE Zornitza Stark Gene: ace has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.134 ACE Zornitza Stark Deleted their review
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.134 WDR44 Seb Lunke Marked gene: WDR44 as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.134 WDR44 Seb Lunke Added comment: Comment when marking as ready: GoF mentioned but not well supported.
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.134 WDR44 Seb Lunke Gene: wdr44 has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.134 WDR44 Seb Lunke Classified gene: WDR44 as Green List (high evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.134 WDR44 Seb Lunke Gene: wdr44 has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.133 WDR44 Andrew Fennell gene: WDR44 was added
gene: WDR44 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic. 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.
3 patients had renal anomalies including 1 with unilateral cystic kidney disease; and nephritis, and kidney hypoplasia resulting in renal failure in two patients.
All patients had learning difficulties with 8 labelled as intellectually disabled (mild-moderate). Other clinical features included anomalies of craniofacial, musculoskeletal, brain, 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
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.133 TBX6 Zornitza Stark Marked gene: TBX6 as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.133 TBX6 Zornitza Stark Gene: tbx6 has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.133 TBX6 Zornitza Stark Phenotypes for gene: TBX6 were changed from Mayer-Rokitansky-Küster-Hauser syndrome; Combined skeletal-kidney dysplasia syndrome to Mayer-Rokitansky-Küster-Hauser syndrome, MONDO:0017771, TBX6-related; Combined skeletal-kidney dysplasia syndrome
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.132 TBX6 Chirag Patel Classified gene: TBX6 as Green List (high evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.132 TBX6 Chirag Patel Gene: tbx6 has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.131 TBX6 Chirag Patel gene: TBX6 was added
gene: TBX6 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic. Sources: Literature
Mode of inheritance for gene: TBX6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TBX6 were set to PMID: 36112137, 36161696
Phenotypes for gene: TBX6 were set to Mayer-Rokitansky-Küster-Hauser syndrome; Combined skeletal-kidney dysplasia syndrome
Review for gene: TBX6 was set to GREEN
gene: TBX6 was marked as current diagnostic
Added comment: TBX6 encodes transcription-factor box 6, a transcription factor critical to paraxial mesoderm segmentation and somitogenesis during embryonic development. TBX6 haploinsufficiency is believed to drive the skeletal and kidney phenotypes associated with the 16p11.2 deletion syndrome.

Ma et al (2022) reported 16 rare variants in TBX6 from Mayer-Rokitansky-Küster-Hauser syndrome cohort (1 truncating, 15 VUS). They observed a significant mutational burden of TBX6 in affected individuals vs controls. Of the 15 variants with uncertain effects, 7 were shown to induce a loss-of-function effect through various mechanisms (i.e. impaired normal splicing of TBX6 messenger RNA, decreased protein expression, perturbed transcriptional activity, and protein mislocalization). There was observed incomplete penetrance and variable expressivity in families carrying deleterious variants.

Li et al (2022) reported 7 individuals with vertebral and rib malformations and structural kidney differences associated with heterozygous TBX6 gene deletion in trans with a hypomorphic TBX6 allele or biallelic TBX6 variants.
Sources: Literature
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.130 CHRM5 Zornitza Stark Marked gene: CHRM5 as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.130 CHRM5 Zornitza Stark Gene: chrm5 has been classified as Red List (Low Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.130 CHRM5 Elena Savva gene: CHRM5 was added
gene: CHRM5 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic. Sources: Literature
Mode of inheritance for gene: CHRM5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CHRM5 were set to 37213061
Phenotypes for gene: CHRM5 were set to Congenital anomaly of kidney and urinary tract, (MONDO:0019719), CHRM5-related
Review for gene: CHRM5 was set to RED
Added comment: PMID: 37213061
- homozygous missense p.(Q184R) in a proband with neurogenic bladder and CAKUT. Additional features were small trabeculated urinary bladder, bilateral severe hydronephrosis, grade V VUR right, chronic kidney disease (stage 4).
- Radioligand binding experiments were inconclusive - the missense variant had no effect on receptor expression or binding affinity.
- ACh binding assay did show a 2-fold increase (borderline significant), but no effect in secondary messenger accumulation.
- Transfected CHO line showed no effect on receptor expression
- Described a mouse K/O as having a bladder overactivity

No hom PTCs in gnomAD
Sources: Literature
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.130 CHRM5 Elena Savva gene: CHRM5 was added
gene: CHRM5 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic. Sources: Literature
Mode of inheritance for gene: CHRM5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CHRM5 were set to 37213061
Phenotypes for gene: CHRM5 were set to Congenital anomaly of kidney and urinary tract, (MONDO:0019719), CHRM5-related
Review for gene: CHRM5 was set to RED
Added comment: PMID: 37213061
- homozygous missense p.(Q184R) in a proband with neurogenic bladder and CAKUT. Additional features were small trabeculated urinary bladder, bilateral severe hydronephrosis, grade V VUR right, chronic kidney disease (stage 4).
- Radioligand binding experiments were inconclusive - the missense variant had no effect on receptor expression or binding affinity.
- ACh binding assay did show a 2-fold increase (borderline significant), but no effect in secondary messenger accumulation.
- Transfected CHO line showed no effect on receptor expression
- Described a mouse K/O as having a bladder overactivity

No hom PTCs in gnomAD
Sources: Literature
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.129 ROBO1 Zornitza Stark Phenotypes for gene: ROBO1 were changed from Syndromic disease, MONDO:0002254; CAKUT to Neurooculorenal syndrome, MIM# 620305
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.128 ROBO1 Zornitza Stark edited their review of gene: ROBO1: Changed phenotypes: Neurooculorenal syndrome, MIM# 620305
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.127 SHROOM4 Alison Yeung Marked gene: SHROOM4 as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.127 SHROOM4 Alison Yeung Gene: shroom4 has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.127 SHROOM4 Alison Yeung Classified gene: SHROOM4 as Green List (high evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.127 SHROOM4 Alison Yeung Gene: shroom4 has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.125 SHROOM4 Alison Yeung gene: SHROOM4 was added
gene: SHROOM4 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic. Sources: Literature
Mode of inheritance for gene: SHROOM4 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: SHROOM4 were set to 36379543
Phenotypes for gene: SHROOM4 were set to Congenital anomaly of the kidney and urinary tracy (CAKUT), SHROOM4-related, MONDO:0019719
Review for gene: SHROOM4 was set to GREEN
Added comment: Six individuals from four unrelated families with CAKUT. Embryonic mouse and zebrafish expression studies showed Shroom4 expression in the upper and lower urinary tract, the developing cloaca, the heart and the cerebral CNS. KD studies in zebrafish larvae revealed pronephric cysts, anomalies of the cloaca and the heart, decreased eye-to-head ratio and higher mortality compared with controls. These phenotypes could be rescued by co-injection of human wild-type SHROOM4 mRNA and morpholino. Variants included one missense, one splice variant and two CNVs (deletions).
Sources: Literature
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.125 SHROOM4 Alison Yeung gene: SHROOM4 was added
gene: SHROOM4 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic. Sources: Literature
Mode of inheritance for gene: SHROOM4 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: SHROOM4 were set to 36379543
Phenotypes for gene: SHROOM4 were set to Congenital anomaly of the kidney and urinary tracy (CAKUT), SHROOM4-related, MONDO:0019719
Review for gene: SHROOM4 was set to GREEN
Added comment: Six individuals from four unrelated families with CAKUT. Embryonic mouse and zebrafish expression studies showed Shroom4 expression in the upper and lower urinary tract, the developing cloaca, the heart and the cerebral CNS. KD studies in zebrafish larvae revealed pronephric cysts, anomalies of the cloaca and the heart, decreased eye-to-head ratio and higher mortality compared with controls. These phenotypes could be rescued by co-injection of human wild-type SHROOM4 mRNA and morpholino. Variants included one missense, one splice variant and two CNVs (deletions).
Sources: Literature
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.123 AGTR1 Chirag Patel Classified gene: AGTR1 as Green List (high evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.123 AGTR1 Chirag Patel Gene: agtr1 has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.122 REN Chirag Patel Classified gene: REN as Green List (high evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.122 REN Chirag Patel Gene: ren has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.122 AGTR1 Chirag Patel Classified gene: AGTR1 as Green List (high evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.122 AGTR1 Chirag Patel Gene: agtr1 has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.121 AGTR1 Chirag Patel gene: AGTR1 was added
gene: AGTR1 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic. Sources: Expert list
Mode of inheritance for gene: AGTR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AGTR1 were set to PMID: 16116425
Phenotypes for gene: AGTR1 were set to Renal tubular dysgenesis, MIM# 267430
Review for gene: AGTR1 was set to GREEN
Added comment: Three 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 list
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.120 REN Chirag Patel gene: REN was added
gene: REN was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic. Sources: Expert list
Mode of inheritance for gene: REN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: REN were set to PMID: 16116425
Phenotypes for gene: REN were set to Renal tubular dysgenesis, MIM# 267430
Review for gene: REN was set to GREEN
Added comment: Well established gene disease association.

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 list
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.120 AGT Chirag Patel Classified gene: AGT as Green List (high evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.120 AGT Chirag Patel Gene: agt has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.119 AGT Chirag Patel gene: AGT was added
gene: AGT was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic. Sources: Expert list
Mode of inheritance for gene: AGT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AGT were set to PMID: 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 list
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.118 ACE Chirag Patel Classified gene: ACE as Green List (high evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.118 ACE Chirag Patel Gene: ace has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.117 ACE Chirag Patel gene: ACE was added
gene: ACE was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic. Sources: Expert list
Mode of inheritance for gene: ACE was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACE were set to PMID: 16116425, 22095942
Phenotypes for gene: ACE were set to Renal tubular dysgenesis, MIM# 267430
Review for gene: ACE was set to GREEN
Added comment: 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. More than 60 families reported.
Sources: Expert list
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.116 Zornitza Stark List of related panels changed from to Abnormality of the urinary system HP:0000079
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.115 DACT1 Zornitza Stark Classified gene: DACT1 as Amber List (moderate evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.115 DACT1 Zornitza Stark Gene: dact1 has been classified as Amber List (Moderate Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.114 DACT1 Paul De Fazio reviewed gene: DACT1: Rating: AMBER; Mode of pathogenicity: None; Publications: 36066768; Phenotypes: Townes-Brocks syndrome 2 MONDO:0054582; Mode of inheritance: None; Current diagnostic: yes
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.114 PAN2 Zornitza Stark Marked gene: PAN2 as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.114 PAN2 Zornitza Stark Gene: pan2 has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.114 PAN2 Zornitza Stark Classified gene: PAN2 as Green List (high evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.114 PAN2 Zornitza Stark Gene: pan2 has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.113 PAN2 Naomi Baker gene: PAN2 was added
gene: PAN2 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic. Sources: Literature
Mode of inheritance for gene: PAN2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PAN2 were set to PMID:35304602; 29620724
Phenotypes for gene: PAN2 were set to Syndromic disease MONDO:0002254
Review for gene: PAN2 was set to GREEN
Added comment: PMID:35304602 reports five individuals from 3 families with biallelic (homozygous) loss-of-function variants. Clinical presentation incudes mild-moderate intellectual disability, hypotonia, sensorineural hearing loss, EEG abnormalities, congenital heart defects (tetralogy of Fallot, septal defects, dilated aortic root), urinary tract malformations, ophthalmological anomalies, short stature with other skeletal anomalies, and craniofacial features including flat occiput, ptosis, long philtrum, and short neck.

PMID:29620724 reports one individual with biallelic (homozygous) loss-of-function variant who presented with global developmental delay, mild hypotonia, craniosynostosis, severe early-onset scoliosis, imperforate anus, and double urinary collecting system.
Sources: Literature
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.113 HAAO Zornitza Stark Publications for gene: HAAO were set to 28792876
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.112 HAAO Zornitza Stark edited their review of gene: HAAO: Added comment: PMID 33942433: three additional families.; Changed publications: 28792876, 33942433
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.112 NOTCH2 Zornitza Stark Marked gene: NOTCH2 as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.112 NOTCH2 Zornitza Stark Gene: notch2 has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.112 NOTCH2 Zornitza Stark Phenotypes for gene: NOTCH2 were changed from to Alagille syndrome 2 (MIM#610205); Hajdu-Cheney syndrome (MIM#102500)
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.111 NOTCH2 Zornitza Stark Publications for gene: NOTCH2 were set to
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.110 NOTCH2 Zornitza Stark Mode of inheritance for gene: NOTCH2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.109 NOTCH2 Krithika Murali 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
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.109 NFIA Zornitza Stark Marked gene: NFIA as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.109 NFIA Zornitza Stark Gene: nfia has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.109 NFIA Zornitza Stark Classified gene: NFIA as Green List (high evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.109 NFIA Zornitza Stark Gene: nfia has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.108 NFIA Zornitza Stark gene: NFIA was added
gene: NFIA was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic. Sources: Expert Review
Mode of inheritance for gene: NFIA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NFIA were set to 35018717; 33973697; 32926563
Phenotypes for gene: NFIA were set to Brain malformations with or without urinary tract defects - MIM#613735
Review for gene: NFIA was set to GREEN
Added comment: Haploinsufficiency of the NFIA gene causes NFIA-related disorder, which includes brain abnormalities and intellectual disability, with or without urinary tract defects.
Sources: Expert Review
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.107 ROBO1 Zornitza Stark Phenotypes for gene: ROBO1 were changed from CAKUT to Syndromic disease, MONDO:0002254; CAKUT
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.106 ROBO1 Zornitza Stark Marked gene: ROBO1 as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.106 ROBO1 Zornitza Stark Gene: robo1 has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.106 ROBO1 Zornitza Stark Classified gene: ROBO1 as Green List (high evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.106 ROBO1 Zornitza Stark Gene: robo1 has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.105 ROBO1 Lucy Spencer gene: ROBO1 was added
gene: ROBO1 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic. Sources: Literature
Mode of inheritance for gene: ROBO1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ROBO1 were set to PMID: 35227688
Phenotypes for gene: ROBO1 were set to CAKUT
Review for gene: ROBO1 was set to GREEN
Added comment: Six unrelated individuals with biallelic truncating or combined missense and truncating variants in ROBO1. Also another family with three affected fetal cases who also had biallelic ROBO1 variants. Pregnancies terminated at 17, 22 and 26 weeks due to a mix i symptoms including anamnios, kidney agenesis associated with ventriculomegaly, polycystic kidneys, and heart defects. Dysmorphic features were also found on fetal examination.

Kidney and genitourinary manifestations in other patients included unilateral or bilateral kidney agenesis, vesicoureteral junction obstruction, vesicoureteral reflux, posterior urethral valve, genital malformation, and increased kidney echogenicity
Sources: Literature
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.105 PBX1 Zornitza Stark Marked gene: PBX1 as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.105 PBX1 Zornitza Stark Gene: pbx1 has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.105 PBX1 Zornitza Stark Phenotypes for gene: PBX1 were changed from to Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay, OMIM #617641
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.104 PBX1 Zornitza Stark Publications for gene: PBX1 were set to
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.103 PBX1 Zornitza Stark Mode of inheritance for gene: PBX1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.102 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
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.102 SIX5 Zornitza Stark Tag disputed tag was added to gene: SIX5.
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.102 SIX5 Zornitza Stark Marked gene: SIX5 as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.102 SIX5 Zornitza Stark Gene: six5 has been classified as Amber List (Moderate Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.102 SIX5 Zornitza Stark Phenotypes for gene: SIX5 were changed from to Branchiootorenal syndrome 2, MIM# 610896
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.102 SIX5 Zornitza Stark Publications for gene: SIX5 were set to
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.101 SIX5 Zornitza Stark Mode of inheritance for gene: SIX5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.100 SIX5 Zornitza Stark Classified gene: SIX5 as Amber List (moderate evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.100 SIX5 Zornitza Stark Gene: six5 has been classified as Amber List (Moderate Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.99 SIX5 Zornitza Stark changed review comment from: Multiple families reported.; to: Multiple families reported. However, association between SIX5 variants and BOR is DISPUTED by ClinGen: Association has been reported in at least 6 probands in 2 publications (17357085, 24429398), however the reported variants are high in frequency in population databases, have no evidence of pathogenicity, and/or an alternate cause of disease has later been reported (21280147). This gene-disease association is supported by protein interaction and biochemical function studies (14704431, 17357085, 11950062). While EYA1 and SIX1 gene inactivation in mice leads to ear and kidney abnormalities, two independent SIX5 mouse models have cataracts and no ear or kidney abnormalities (10802667, 10802668). In summary, there is convincing evidence disputing the association between SIX5 and autosomal dominant branchio-oto-renal syndrome.
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.99 SIX5 Zornitza Stark edited their review of gene: SIX5: Changed publications: 17357085, 33624842, 20301554, 24730701, 22447252, 21280147, 14704431, 11950062, 10802667, 10802668
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.99 SIX5 Zornitza Stark edited their review of gene: SIX5: Changed rating: AMBER
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.99 SIX5 Zornitza Stark reviewed gene: SIX5: Rating: GREEN; Mode of pathogenicity: None; Publications: 17357085, 33624842, 20301554, 24730701, 22447252; Phenotypes: Branchiootorenal syndrome 2, MIM# 610896; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.99 WLS Zornitza Stark Phenotypes for gene: WLS were changed from Syndromic structural birth defects to Zaki syndrome, MIM#619648
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.98 WLS Zornitza Stark reviewed gene: WLS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Zaki syndrome, MIM#619648; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.98 GDF6 Ain Roesley reviewed gene: GDF6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: syndromic CAKUT; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.98 TMEM260 Zornitza Stark Marked gene: TMEM260 as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.98 TMEM260 Zornitza Stark Gene: tmem260 has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.98 TMEM260 Zornitza Stark Marked gene: TMEM260 as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.98 TMEM260 Zornitza Stark Gene: tmem260 has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.98 TMEM260 Zornitza Stark changed review comment from: Seven unrelated families reported.
Sources: Expert Review; to: Seven unrelated families reported. Clinical features: ventricular septal defects (12/12), mostly secondary to truncus arteriosus (10/12), elevated creatinine levels (6/12), horse-shoe kidneys (1/12) and renal cysts (1/12) in patients.
Sources: Expert Review
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.98 TMEM260 Zornitza Stark Publications for gene: TMEM260 were set to 28318500
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.97 TMEM260 Zornitza Stark Classified gene: TMEM260 as Green List (high evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.97 TMEM260 Zornitza Stark Gene: tmem260 has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.96 TMEM260 Zornitza Stark changed review comment from: Two unrelated families reported.
Sources: Expert Review; to: Seven unrelated families reported.
Sources: Expert Review
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.96 TMEM260 Zornitza Stark edited their review of gene: TMEM260: Changed rating: GREEN; Changed publications: 28318500, 34612517
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.96 TMEM260 Zornitza Stark gene: TMEM260 was added
gene: TMEM260 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic. Sources: Expert Review
Mode of inheritance for gene: TMEM260 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM260 were set to 28318500
Phenotypes for gene: TMEM260 were set to Structural heart defects and renal anomalies syndrome, MIM# 617478
Review for gene: TMEM260 was set to AMBER
Added comment: Two unrelated families reported.
Sources: Expert Review
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.95 GRIP1 Zornitza Stark Marked gene: GRIP1 as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.95 GRIP1 Zornitza Stark Gene: grip1 has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.95 GRIP1 Zornitza Stark Phenotypes for gene: GRIP1 were changed from to Fraser syndrome 3 MIM#617667; CAKUT
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.94 GRIP1 Zornitza Stark Publications for gene: GRIP1 were set to
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.93 GRIP1 Zornitza Stark Mode of inheritance for gene: GRIP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.92 GRIP1 Zornitza Stark reviewed gene: GRIP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24700879, 24357607, 22510445; Phenotypes: Fraser syndrome 3 MIM#617667, CAKUT; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.92 NADSYN1 Zornitza Stark Phenotypes for gene: NADSYN1 were changed from Multiple congenital abnormalities; absent kidneys; cardiac; limb; vertebral to Vertebral, cardiac, renal, and limb defects syndrome 3, MONDO:0030077; Vertebral, cardiac, renal, and limb defects syndrome 3, OMIM:618845
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.91 NADSYN1 Zornitza Stark edited their review of gene: NADSYN1: Changed phenotypes: Vertebral, cardiac, renal, and limb defects syndrome 3, MONDO:0030077, Vertebral, cardiac, renal, and limb defects syndrome 3, OMIM:618845
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.91 TOP2B Zornitza Stark Classified gene: TOP2B as Green List (high evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.91 TOP2B Zornitza Stark Gene: top2b has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.90 TOP2B Zornitza Stark Marked gene: TOP2B as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.90 TOP2B Zornitza Stark Gene: top2b has been classified as Red List (Low Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.90 TOP2B Zornitza Stark gene: TOP2B was added
gene: TOP2B was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic. Sources: Literature
Mode of inheritance for gene: TOP2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TOP2B were set to 31409799
Phenotypes for gene: TOP2B were set to B-cell immunodeficiency, distal limb anomalies, and urogenital malformations, MIM# 609296
Review for gene: TOP2B was set to GREEN
Added comment: Four individuals from three unrelated families reported, all the variants affected the TOPRIM domain, functional data including mouse model.
Sources: Literature
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.89 WLS Zornitza Stark Marked gene: WLS as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.89 WLS Zornitza Stark Gene: wls has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.89 WLS Zornitza Stark Classified gene: WLS as Green List (high evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.89 WLS Zornitza Stark Gene: wls has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.88 WLS Teresa Zhao gene: WLS was added
gene: WLS was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic. Sources: Literature
Mode of inheritance for gene: WLS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WLS were set to PMID: 34587386
Phenotypes for gene: WLS were set to Syndromic structural birth defects
Review for gene: WLS was set to GREEN
Added comment: - Homozygous mutations in 10 affected persons from 5 unrelated families.
- Patients had multiorgan defects, including microcephal, facial dysmorphism, foot syndactyly, renal agenesis, alopecia, iris coloboma, and heart defects.
- The mutations affected WLS protein stability and Wnt signaling. Knock-in mice showed tissue and cell vulnerability consistent with Wnt-signaling intensity and individual and collective functions of Wnts in embryogenesis.
Sources: Literature
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.88 FOXP1 Zornitza Stark Marked gene: FOXP1 as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.88 FOXP1 Zornitza Stark Gene: foxp1 has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.88 FOXP1 Zornitza Stark Classified gene: FOXP1 as Green List (high evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.88 FOXP1 Zornitza Stark Gene: foxp1 has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.87 FOXP1 Zornitza Stark gene: FOXP1 was added
gene: FOXP1 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic. Sources: Expert Review
Mode of inheritance for gene: FOXP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FOXP1 were set to 27657687
Phenotypes for gene: FOXP1 were set to Mental retardation with language impairment and with or without autistic features, MIM# 613670
Review for gene: FOXP1 was set to GREEN
Added comment: Well established association with syndromic ID. Multiple individuals reported with congenital anomalies of the kidneys and urinary tract in PMID 27657687.
Sources: Expert Review
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.86 ZMYM2 Zornitza Stark Phenotypes for gene: ZMYM2 were changed from Abnormality of the urinary system; Global developmental delay; Intellectual disability; Microcephaly; Abnormality of the cardiovascular system; Autism; Seizures; Abnormality of the head or neck; Abnormality of the nail; Small hand; Short foot; Clinodactyly to Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities, MIM# 619522
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.85 ZMYM2 Zornitza Stark reviewed gene: ZMYM2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities, MIM# 619522; Mode of inheritance: None
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.85 HS2ST1 Zornitza Stark Marked gene: HS2ST1 as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.85 HS2ST1 Zornitza Stark Gene: hs2st1 has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.85 HS2ST1 Zornitza Stark Classified gene: HS2ST1 as Green List (high evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.85 HS2ST1 Zornitza Stark Gene: hs2st1 has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.84 HS2ST1 Zornitza Stark gene: HS2ST1 was added
gene: HS2ST1 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic. Sources: Expert Review
Mode of inheritance for gene: HS2ST1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HS2ST1 were set to 33159882
Phenotypes for gene: HS2ST1 were set to Neurofacioskeletal syndrome with or without renal agenesis, MIM#619194
Review for gene: HS2ST1 was set to GREEN
Added comment: 4 individuals from 3 unrelated families reported.
Sources: Expert Review
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.83 AFF3 Zornitza Stark Marked gene: AFF3 as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.83 AFF3 Zornitza Stark Gene: aff3 has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.83 AFF3 Zornitza Stark Classified gene: AFF3 as Green List (high evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.83 AFF3 Zornitza Stark Gene: aff3 has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.82 AFF3 Zornitza Stark gene: AFF3 was added
gene: AFF3 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic. Sources: Literature
Mode of inheritance for gene: AFF3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: AFF3 were set to 31388108; 33961779
Phenotypes for gene: AFF3 were set to KINSSHIP syndrome, MIM# 619297
Review for gene: AFF3 was set to GREEN
Added comment: 16 affected individuals reported with de novo missense variants. All variants occurred within the degron motif of the ALF domain. The highly conserved 9-amino acid motif mediates the interaction with SIAH E3 ubiquitin ligases and regulates their degradation. Thirteen of the probands carried variants affecting the same codon in exon 6, ala258.

All probands presented with severe developmental epileptic encephalopathy along with mesomelic dysplasia (12/18) and failure to thrive (14/18). The skeletal features included short forearms, radial head dislocation/subluxation, triangular and/or short tibia, fibular hypoplasia, hip dislocation, and tarsal and/or metatarsal synostosis resembling Nievergelt/Savarirayan mesomelic skeletal dysplasia. Other features included microcephaly (9/18), global brain atrophy and/or ventriculomegaly (13/15), fibular hypoplasia (12/16), horseshoe or hypoplastic kidney (13/17), abnormalities of muscle tone (12/16), gastroesophageal reflux disease (6/16), and other gastrointestinal symptoms (14/17). The patients also shared common dysmorphic facial features such as a bulbous nasal tip (10/15), a wide mouth (10/16) often with a square upper lip, abnormalities of the teeth and gums (12/15), and hypertrichosis (12/15). The constellation of features recalled some features of CHOPS syndrome, which is caused by mutations in a related gene, AFF4.
Sources: Literature
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.81 WBP11 Zornitza Stark Phenotypes for gene: WBP11 were changed from malformation syndrome affecting the cardiac, skeletal, gastrointestinal and renal systems to Vertebral, cardiac, tracheoesophageal, renal, and limb defects, MIM# 619227; malformation syndrome affecting the cardiac, skeletal, gastrointestinal and renal systems
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.80 WBP11 Zornitza Stark edited their review of gene: WBP11: Changed phenotypes: Vertebral, cardiac, tracheoesophageal, renal, and limb defects, MIM# 619227, malformation syndrome affecting the cardiac, skeletal, gastrointestinal and renal systems
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.80 WBP11 Zornitza Stark Marked gene: WBP11 as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.80 WBP11 Zornitza Stark Gene: wbp11 has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.80 WBP11 Zornitza Stark Classified gene: WBP11 as Green List (high evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.80 WBP11 Zornitza Stark Gene: wbp11 has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.79 WBP11 Zornitza Stark gene: WBP11 was added
gene: WBP11 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic. Sources: Literature
Mode of inheritance for gene: WBP11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: WBP11 were set to 33276377
Phenotypes for gene: WBP11 were set to malformation syndrome affecting the cardiac, skeletal, gastrointestinal and renal systems
Review for gene: WBP11 was set to GREEN
Added comment: PMID: 33276377 - Martin et al 2020 - report 13 affected individuals from 7 unrelated families identified through various different cohort analysis (vertebral malformation, renal hypodysplasia, syndromic esophageal atresia, multiple congenital anomalies) in whom a WBP11 heterozygous variant is considered the top causative candidate. 5 identified variants were predicted to be protein truncating whilst the 6th was a missense variant. All variants are absent from population databases. In family 1, the variant was inherited from the apparently unaffected mother, indicating reduced penetrance, and phenotypic variance within families was observed. Phenotypes covered cardiac, vertebral, renal, craniofacial and gastrointestinal systems. At least at least 5 of the patients affected had features in three component organs so can be considered a VACTERL association. Wbp11 heterozygous null mice had vertebral and renal anomalies.
Sources: Literature
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.78 GDF6 Zornitza Stark Marked gene: GDF6 as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.78 GDF6 Zornitza Stark Gene: gdf6 has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.78 GDF6 Zornitza Stark Classified gene: GDF6 as Green List (high evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.78 GDF6 Zornitza Stark Gene: gdf6 has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.77 GDF6 Zornitza Stark gene: GDF6 was added
gene: GDF6 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic. Sources: Literature
Mode of inheritance for gene: GDF6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GDF6 were set to 32737436
Phenotypes for gene: GDF6 were set to Syndromic CAKUT
Review for gene: GDF6 was set to GREEN
Added comment: Three individuals (three families) with kidney hypodysplasia and extrarenal manifestations, two of them additionally manifesting skeletal, ocular, or auricular abnormalities. Two with same variant c.746C>A p.(Ala249Glu) and the third with c.112G>C p.(Gly38Arg). "CRISPR/Cas9-derived knockout of Gdf6 attenuated migration of murine IMCD3 cells, an effect rescued by expression of wild-type but not mutant GDF6, indicating affected variant function regarding a fundamental developmental process. Knockdown of gdf6 in Xenopus laevis resulted in impaired pronephros development."
Sources: Literature
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.76 SON Zornitza Stark Marked gene: SON as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.76 SON Zornitza Stark Gene: son has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.76 SON Zornitza Stark Classified gene: SON as Green List (high evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.76 SON Zornitza Stark Gene: son has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.75 SON Zornitza Stark gene: SON was added
gene: SON was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic. Sources: Expert Review
Mode of inheritance for gene: SON was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SON were set to 27545680; 27545676; 31005274
Phenotypes for gene: SON were set to ZTTK syndrome, MIM# 617140
Review for gene: SON was set to GREEN
Added comment: ZTTK syndrome is a severe multisystem developmental disorder characterised by intellectual disability, characteristic dysmorphic facial features, hypotonia, poor feeding, poor overall growth, and eye or visual abnormalities. Most individuals also have musculoskeletal abnormalities, and some have congenital defects of the heart and urogenital system. Brain imaging usually shows developmental abnormalities such as gyral changes, cortical and/or cerebellar atrophy, and thin corpus callosum. More than 40 unrelated individuals reported.

Kidney anomalies are relatively common and include horseshoe kidney, unilateral renal hypoplasia, and renal cysts.
Sources: Expert Review
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.74 FOXC1 Zornitza Stark Marked gene: FOXC1 as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.74 FOXC1 Zornitza Stark Added comment: Comment when marking as ready: Appears to be a distinct association but I agree, the pathogenicity of the variants is not firmly established.
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.74 FOXC1 Zornitza Stark Gene: foxc1 has been classified as Amber List (Moderate Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.74 FOXC1 Zornitza Stark Marked gene: FOXC1 as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.74 FOXC1 Zornitza Stark Gene: foxc1 has been classified as Amber List (Moderate Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.74 FOXC1 Zornitza Stark Phenotypes for gene: FOXC1 were changed from to Congenital anomalies of the kidney and urinary tract (CAKUT)
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.73 FOXC1 Zornitza Stark Publications for gene: FOXC1 were set to 32475988
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.72 FOXC1 Zornitza Stark Publications for gene: FOXC1 were set to
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.71 FOXC1 Zornitza Stark Mode of inheritance for gene: FOXC1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.70 FOXC1 Chirag Patel Classified gene: FOXC1 as Amber List (moderate evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.70 FOXC1 Chirag Patel Gene: foxc1 has been classified as Amber List (Moderate Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.69 FOXC1 Chirag Patel edited their review of gene: FOXC1: Added comment: Seven FOXC1 'pathogenic' variants in 8 CAKUT families identified through WES. All individuals carrying the FOXC1 pathogenic variants are heterozygote. There was incomplete penetrance and variable expressivity in families. None of the 7 pathogenic variants were reported before in patients with Axenfeld–Rieger syndrome, anterior segment dysgenesis, or congenital glaucoma. Two of the seven pathogenic variants are novel, i.e., they were never observed in the population database before, including the gnomAD database that collects 141,456 control individuals.34 The other five pathogenic variants, though reported in the population database, are present in less than five individuals as a heterozygote. The locations of these pathogenic variants do not cluster in the forkhead domain (where variants causing Axenfeld–Rieger syndrome or anterior segment dysgenesis are located).
NB they call them pathogenic - but no documentation of ACMG criteria used.

Previous animal studies show CAKUT in homozygous and heterozygous mice.; Changed rating: AMBER; Changed publications: PMID: 32475988; Changed phenotypes: Congenital anomalies of the kidney and urinary tract (CAKUT); Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.69 ZMYM2 Zornitza Stark Marked gene: ZMYM2 as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.69 ZMYM2 Zornitza Stark Gene: zmym2 has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.69 ZMYM2 Zornitza Stark Classified gene: ZMYM2 as Green List (high evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.69 ZMYM2 Zornitza Stark Gene: zmym2 has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.68 ZMYM2 Konstantinos Varvagiannis gene: ZMYM2 was added
gene: ZMYM2 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic. Sources: Literature
Mode of inheritance for gene: ZMYM2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ZMYM2 were set to 32891193
Phenotypes for gene: ZMYM2 were set to Abnormality of the urinary system; Global developmental delay; Intellectual disability; Microcephaly; Abnormality of the cardiovascular system; Autism; Seizures; Abnormality of the head or neck; Abnormality of the nail; Small hand; Short foot; Clinodactyly
Penetrance for gene: ZMYM2 were set to unknown
Review for gene: ZMYM2 was set to GREEN
Added comment: Heterozygous pathogenic (pLoF) ZMYM2 variants have been reported in individuals with syndromic presentation including CAKUT (in several cases) and variable neurological manifestations among extra-renal features. DD and ID were reported in some of the families described to date as summarized below. You might consider inclusion with green/amber rating in the ID panel and green in the panel for CAKUT.

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Connaughton et al (2020 - PMID: 32891193) report on 19 individuals (from 15 unrelated families) with heterozygous pathogenic ZMYM2 variants. [Article not reviewed in detail].

Affected individuals from 7 families presented with CAKUT while all of them displayed extra-renal features. Neurological manifestations were reported in 16 individuals from 14 families (data not available for 1 fam), among others hypotonia (3/14 fam), speech delay (4/14 fam), global DD (9/14 fam), ID (4/14 fam), microcephaly (4/14 fam). ASD was reported in 4 fam (4 indiv). Seizures were reported in 2 fam (2 indiv). Variable other features included cardiac defects, facial dysmorphisms, small hands and feet with dys-/hypo-plastic nails and clinodactyly.

14 pLoF variants were identified, in most cases as de novo events (8 fam). In 2 families the variant was inherited from an affected parent. Germline mosaicism occurred in 1 family.

The human disease features were recapitulated in a X. tropicalis morpholino knockdown, with expression of truncating variants failing to rescue renal and craniofacial defects. Heterozygous Zmym2-deficient mice also recapitulated the features of CAKUT.

ZMYM2 (previously ZNF198) encodes a nuclear zinc finger protein localizing to the nucleus (and PML nuclear body).

It has previously been identified as transcriptional corepressor interacting with nuclear receptors and the LSD1-CoREST-HDAC1 complex. It has also been shown to interact with FOXP transcription factors.

The authors provide evidence for loss of interaction of the truncated ZMYM2 with FOXP1 (mutations in the latter having recently been reported in syndromic CAKUT).
Sources: Literature
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.68 HSPA9 Zornitza Stark Marked gene: HSPA9 as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.68 HSPA9 Zornitza Stark Gene: hspa9 has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.68 HSPA9 Zornitza Stark Classified gene: HSPA9 as Green List (high evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.68 HSPA9 Zornitza Stark Gene: hspa9 has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.67 HSPA9 Zornitza Stark gene: HSPA9 was added
gene: HSPA9 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic. Sources: Literature
Mode of inheritance for gene: HSPA9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HSPA9 were set to 26598328; 32869452
Phenotypes for gene: HSPA9 were set to Even-plus syndrome, MIM# 616854; skeletal anomalies; congenital cardiac and renal anomalies: marked small nose
Review for gene: HSPA9 was set to GREEN
Added comment: Biallelic variants in 4 individuals from 5 families. Significant skeletal features and marked nasal hypoplasia with mid-face hypoplasia. 2/5 with developmental delay and abnormalities of the corpus callosum 4/5 with congenital heart disease
Sources: Literature
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.65 DYRK1A Zornitza Stark Marked gene: DYRK1A as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.65 DYRK1A Zornitza Stark Gene: dyrk1a has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.65 DYRK1A Zornitza Stark Classified gene: DYRK1A as Green List (high evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.65 DYRK1A Zornitza Stark Gene: dyrk1a has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.64 DYRK1A Zornitza Stark gene: DYRK1A was added
gene: DYRK1A was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic. Sources: Literature
Mode of inheritance for gene: DYRK1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DYRK1A were set to 25707398; 31263215
Phenotypes for gene: DYRK1A were set to Mental retardation, autosomal dominant 7 (MIM#614104)
Review for gene: DYRK1A was set to GREEN
Added comment: Review of 15 patients with pathogenic DYRK1A variants revealed 11 of whom presented with CAKUT/genital defects. Studies in Xenopus embryos supported findings (Blackburn 2019; PMID: 31263215)
Sources: Literature
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.63 TFAP2A Zornitza Stark Phenotypes for gene: TFAP2A were changed from Branchiooculofacial syndrome, MIM# 113620 to Branchiooculofacial syndrome, MIM# 113620
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.62 TFAP2A Zornitza Stark Marked gene: TFAP2A as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.62 TFAP2A Zornitza Stark Gene: tfap2a has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.62 TFAP2A Zornitza Stark Phenotypes for gene: TFAP2A were changed from to Branchiooculofacial syndrome, MIM# 113620
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.62 TFAP2A Zornitza Stark Mode of inheritance for gene: TFAP2A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.61 TFAP2A Zornitza Stark reviewed gene: TFAP2A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Branchiooculofacial syndrome, MIM# 113620; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.61 CTU2 Zornitza Stark Phenotypes for gene: CTU2 were changed from Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome to Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.61 CTU2 Zornitza Stark Marked gene: CTU2 as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.61 CTU2 Zornitza Stark Gene: ctu2 has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.61 CTU2 Zornitza Stark Phenotypes for gene: CTU2 were changed from to Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.60 CTU2 Zornitza Stark Publications for gene: CTU2 were set to
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.60 CTU2 Zornitza Stark Mode of inheritance for gene: CTU2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.59 KIF14 Zornitza Stark Marked gene: KIF14 as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.59 KIF14 Zornitza Stark Gene: kif14 has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.59 BMP4 Zornitza Stark Marked gene: BMP4 as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.59 BMP4 Zornitza Stark Gene: bmp4 has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.59 BMP4 Zornitza Stark Phenotypes for gene: BMP4 were changed from to CAKUT
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.58 BMP4 Zornitza Stark Publications for gene: BMP4 were set to
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.58 BMP4 Zornitza Stark Mode of inheritance for gene: BMP4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.57 DACT1 Zornitza Stark Marked gene: DACT1 as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.57 DACT1 Zornitza Stark Added comment: Comment when marking as ready: Changed to Red after review against GEL gene-disease assessment.
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.57 DACT1 Zornitza Stark Gene: dact1 has been classified as Red List (Low Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.57 DHCR7 Zornitza Stark Publications for gene: DHCR7 were set to 3812577; 10069707; 23059950; 9678700
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.57 DHCR7 Zornitza Stark Phenotypes for gene: DHCR7 were changed from Smith-Lemli-Opitz syndrome; OMIM #270400 to Smith-Lemli-Opitz syndrome; OMIM #270400
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.57 DHCR7 Zornitza Stark Phenotypes for gene: DHCR7 were changed from Smith-Lemli-Opitz syndrome; OMIM #270400 to Smith-Lemli-Opitz syndrome; OMIM #270400
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.56 DHCR7 Zornitza Stark Marked gene: DHCR7 as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.56 DHCR7 Zornitza Stark Gene: dhcr7 has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.56 DHCR7 Zornitza Stark Phenotypes for gene: DHCR7 were changed from to Smith-Lemli-Opitz syndrome; OMIM #270400
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.56 DHCR7 Zornitza Stark Publications for gene: DHCR7 were set to
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.56 DHCR7 Zornitza Stark Mode of inheritance for gene: DHCR7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.55 FGF10 Zornitza Stark Phenotypes for gene: FGF10 were changed from LADD syndrome; OMIM #149730 to LADD syndrome; OMIM #149730
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.54 FGF10 Zornitza Stark Marked gene: FGF10 as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.54 FGF10 Zornitza Stark Gene: fgf10 has been classified as Red List (Low Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.54 FGF10 Zornitza Stark Phenotypes for gene: FGF10 were changed from to LADD syndrome; OMIM #149730
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.54 FGF10 Zornitza Stark Mode of inheritance for gene: FGF10 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.53 FOXC2 Zornitza Stark Phenotypes for gene: FOXC2 were changed from Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus; OMIM #153400 to Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus; OMIM #153400
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.54 FOXC2 Zornitza Stark Publications for gene: FOXC2 were set to 15523639
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.53 FOXC2 Zornitza Stark Marked gene: FOXC2 as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.53 FOXC2 Zornitza Stark Gene: foxc2 has been classified as Red List (Low Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.53 FOXC2 Zornitza Stark Publications for gene: FOXC2 were set to
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.53 FOXC2 Zornitza Stark Mode of inheritance for gene: FOXC2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.52 FOXC2 Zornitza Stark Phenotypes for gene: FOXC2 were changed from to Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus; OMIM #153400
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.52 FOXC2 Zornitza Stark Mode of inheritance for gene: FOXC2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.51 SALL4 Zornitza Stark Phenotypes for gene: SALL4 were changed from SALL4- related disorders to SALL4- related disorders
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.51 SALL4 Zornitza Stark Marked gene: SALL4 as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.51 SALL4 Zornitza Stark Gene: sall4 has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.51 SALL4 Zornitza Stark Phenotypes for gene: SALL4 were changed from to SALL4- related disorders
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.50 SALL4 Zornitza Stark Publications for gene: SALL4 were set to
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.50 SALL4 Zornitza Stark Mode of inheritance for gene: SALL4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.49 SIX1 Zornitza Stark Phenotypes for gene: SIX1 were changed from Branchiootic syndrome 3, MIM#608389; Deafness, autosomal dominant 23, MIM# 605192 to Branchiootic syndrome 3, MIM#608389; Deafness, autosomal dominant 23, MIM# 605192
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.49 SIX1 Zornitza Stark Marked gene: SIX1 as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.49 SIX1 Zornitza Stark Gene: six1 has been classified as Red List (Low Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.49 SIX1 Zornitza Stark Phenotypes for gene: SIX1 were changed from to Branchiootic syndrome 3, MIM#608389; Deafness, autosomal dominant 23, MIM# 605192
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.48 SALL4 Chirag Patel reviewed gene: SALL4: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20301547; Phenotypes: SALL4- related disorders; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.48 SIX1 Zornitza Stark Mode of inheritance for gene: SIX1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.47 SIX1 Zornitza Stark Classified gene: SIX1 as Red List (low evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.47 SIX1 Zornitza Stark Gene: six1 has been classified as Red List (Low Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.46 SIX1 Zornitza Stark reviewed gene: SIX1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Branchiootic syndrome 3, MIM#608389, Deafness, autosomal dominant 23, MIM# 605192; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.46 FAM58A Zornitza Stark Marked gene: FAM58A as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.46 FAM58A Zornitza Stark Gene: fam58a has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.46 MYOCD Chirag Patel reviewed gene: MYOCD: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31513549; Phenotypes: Megabladder, congenital heart disease, cardiomyopathy; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.46 FOXC2 Chirag Patel Classified gene: FOXC2 as Red List (low evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.46 FOXC2 Chirag Patel Gene: foxc2 has been classified as Red List (Low Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.45 FOXC2 Chirag Patel Deleted their comment
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.45 FOXC2 Chirag Patel Deleted their comment
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.45 FGFR3 Chirag Patel Classified gene: FGFR3 as Red List (low evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.45 FGFR3 Chirag Patel Gene: fgfr3 has been classified as Red List (Low Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.45 FOXC2 Chirag Patel commented on gene: FOXC2: 1 German-Irish family in which 6 affected members spanning 3 generations had lymphedema-distichiasis syndrome, and a 1-bp insertion in the FOXC2 gene. Four of the affected members also had renal disease, and 3 had type II diabetes mellitus, features not usually seen in lymphedema-distichiasis syndrome. The oldest affected member of the family was 73 years old at the time of report and was on chronic renal dialysis. One of her sons, aged 45 years, had developed proteinuria at age 32 years. Renal biopsy showed chronic sclerosing glomerulopathy and chronic tubulointerstitial nephritis. One member of the family underwent renal transplantation and, shortly thereafter, pancreatic transplantation, both with excellent results. She was 36 years old at the time of report and had distichiasis but no lymphedema.
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.45 FOXC2 Chirag Patel commented on gene: FOXC2: 1 German-Irish family in which 6 affected members spanning 3 generations had lymphedema-distichiasis syndrome, and a 1-bp insertion in the FOXC2 gene. Four of the affected members also had renal disease, and 3 had type II diabetes mellitus, features not usually seen in lymphedema-distichiasis syndrome. The oldest affected member of the family was 73 years old at the time of report and was on chronic renal dialysis. One of her sons, aged 45 years, had developed proteinuria at age 32 years. Renal biopsy showed chronic sclerosing glomerulopathy and chronic tubulointerstitial nephritis. One member of the family underwent renal transplantation and, shortly thereafter, pancreatic transplantation, both with excellent results. She was 36 years old at the time of report and had distichiasis but no lymphedema.
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.45 FOXC2 Chirag Patel reviewed gene: FOXC2: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 15523639; Phenotypes: Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus, OMIM #153400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.45 FGFR3 Chirag Patel Classified gene: FGFR3 as Red List (low evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.45 FGFR3 Chirag Patel Gene: fgfr3 has been classified as Red List (Low Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.45 FGFR3 Chirag Patel Classified gene: FGFR3 as Red List (low evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.45 FGFR3 Chirag Patel Gene: fgfr3 has been classified as Red List (Low Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.45 FGFR3 Chirag Patel Classified gene: FGFR3 as Red List (low evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.45 FGFR3 Chirag Patel Gene: fgfr3 has been classified as Red List (Low Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.45 FGFR2 Zornitza Stark Marked gene: FGFR2 as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.45 FGFR2 Zornitza Stark Gene: fgfr2 has been classified as Red List (Low Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.45 FGFR3 Chirag Patel Classified gene: FGFR3 as Red List (low evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.45 FGFR3 Chirag Patel Gene: fgfr3 has been classified as Red List (Low Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.45 FGFR3 Chirag Patel Classified gene: FGFR3 as Red List (low evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.45 FGFR3 Chirag Patel Gene: fgfr3 has been classified as Red List (Low Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.44 FGFR3 Chirag Patel Deleted their comment
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.44 FAM58A Zornitza Stark Phenotypes for gene: FAM58A were changed from to STAR syndrome, MIM# 300707
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.44 FGFR2 Zornitza Stark Classified gene: FGFR2 as Red List (low evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.44 FGFR2 Zornitza Stark Gene: fgfr2 has been classified as Red List (Low Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.43 FGFR3 Chirag Patel commented on gene: FGFR3: Not a prominent features of FGFR3 related disorders
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.43 FGFR3 Chirag Patel reviewed gene: FGFR3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.43 FGFR2 Zornitza Stark reviewed gene: FGFR2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.43 FAM58A Zornitza Stark Publications for gene: FAM58A were set to
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.43 FAM58A Zornitza Stark Mode of inheritance for gene: FAM58A was changed from Other to Other
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.42 FGF10 Chirag Patel Classified gene: FGF10 as Red List (low evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.42 FGF10 Chirag Patel Gene: fgf10 has been classified as Red List (Low Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.42 FGF10 Chirag Patel Classified gene: FGF10 as Red List (low evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.42 FGF10 Chirag Patel Gene: fgf10 has been classified as Red List (Low Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.41 FGF10 Chirag Patel reviewed gene: FGF10: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: LADD syndrome, OMIM #149730; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.41 FAM58A Zornitza Stark Mode of inheritance for gene: FAM58A was changed from Unknown to Other
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.40 FAM58A Zornitza Stark reviewed gene: FAM58A: Rating: GREEN; Mode of pathogenicity: None; Publications: 28225384, 18297069; Phenotypes: STAR syndrome, MIM# 300707; Mode of inheritance: Other
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.40 DHCR7 Chirag Patel reviewed gene: DHCR7: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 3812577, 10069707, 23059950, 9678700; Phenotypes: Smith-Lemli-Opitz syndrome, OMIM #270400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.40 COQ7 Chirag Patel Classified gene: COQ7 as Amber List (moderate evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.40 COQ7 Chirag Patel Gene: coq7 has been classified as Amber List (Moderate Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.40 COQ7 Chirag Patel Classified gene: COQ7 as Amber List (moderate evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.40 COQ7 Chirag Patel Gene: coq7 has been classified as Amber List (Moderate Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.40 DACT1 Zornitza Stark Classified gene: DACT1 as Red List (low evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.40 DACT1 Zornitza Stark Gene: dact1 has been classified as Red List (Low Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.40 COQ7 Chirag Patel Classified gene: COQ7 as Amber List (moderate evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.40 COQ7 Chirag Patel Gene: coq7 has been classified as Amber List (Moderate Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.39 COQ7 Chirag Patel Classified gene: COQ7 as Amber List (moderate evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.39 COQ7 Chirag Patel Gene: coq7 has been classified as Amber List (Moderate Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.39 COQ7 Chirag Patel Classified gene: COQ7 as Amber List (moderate evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.39 COQ7 Chirag Patel Gene: coq7 has been classified as Amber List (Moderate Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.38 COQ7 Chirag Patel changed review comment from: only one patient with mito disease and happened to have hypoplastic kidneys.; to: only 2 patients reported
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.38 COQ7 Chirag Patel Classified gene: COQ7 as Red List (low evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.38 COQ7 Chirag Patel Gene: coq7 has been classified as Red List (Low Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.37 COQ7 Chirag Patel reviewed gene: COQ7: Rating: RED; Mode of pathogenicity: None; Publications: PubMed: 26084283; Phenotypes: ?Coenzyme Q10 deficiency, primary, 8, OMIM #616733; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.37 BMP4 Chirag Patel reviewed gene: BMP4: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30568244, 24131739, 23641053, 19685083; Phenotypes: CAKUT; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.37 Zornitza Stark Panel name changed from Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic
Panel types changed to Victorian Clinical Genetics Services
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.36 ACTG2 Zornitza Stark Marked gene: ACTG2 as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.36 ACTG2 Zornitza Stark Gene: actg2 has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.36 ACTG2 Zornitza Stark Classified gene: ACTG2 as Green List (high evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.36 ACTG2 Zornitza Stark Gene: actg2 has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.35 ACTG2 Zornitza Stark gene: ACTG2 was added
gene: ACTG2 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS. Sources: Expert list
Mode of inheritance for gene: ACTG2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ACTG2 were set to Visceral myopathy, MIM# 155310
Review for gene: ACTG2 was set to GREEN
Added comment: Renal manifestations: megacystis, hydronephrosis.
Sources: Expert list
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.34 KIF14 Chirag Patel Classified gene: KIF14 as Green List (high evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.34 KIF14 Chirag Patel Gene: kif14 has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.33 KIF14 Chirag Patel gene: KIF14 was added
gene: KIF14 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS. Sources: Literature
Mode of inheritance for gene: KIF14 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIF14 were set to PMID: 30388224. 24128419
Phenotypes for gene: KIF14 were set to Microcephaly 20, primary, autosomal recessive, OMIM #617914; ?Meckel syndrome 12, OMIM #616258
Review for gene: KIF14 was set to GREEN
Added comment: 1 family with 2 sib fetuses with features consistent with Meckel syndrome, with KIF14 mutations which segregated with the disorder in the family


Mutations in KIF14 have previously been associated with either severe, isolated or syndromic microcephaly with renal hypodysplasia (RHD). Four families with fetuses presenting with the syndromic form and harbouring biallelic variants in KIF14. The functional analyses showed that the identified variants severely impact the activity of KIF14 and likely correspond to loss-of-function mutations. In vitro and in vivo analyses did not provide evidence of a direct role for KIF14 in ciliogenesis and suggested that loss of kif14 causes ciliopathy-like phenotypes through an accumulation of mitotic cells in ciliated tissues. Altogether, the results demonstrate that KIF14 mutations result in a severe syndrome associating microcephaly and RHD through its conserved function in cytokinesis during kidney and brain development.
Sources: Literature
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.32 NADSYN1 Zornitza Stark Marked gene: NADSYN1 as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.32 NADSYN1 Zornitza Stark Gene: nadsyn1 has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.32 NADSYN1 Zornitza Stark Classified gene: NADSYN1 as Green List (high evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.32 NADSYN1 Zornitza Stark Gene: nadsyn1 has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.31 NADSYN1 Zornitza Stark gene: NADSYN1 was added
gene: NADSYN1 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS. Sources: Literature
Mode of inheritance for gene: NADSYN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NADSYN1 were set to 31883644
Phenotypes for gene: NADSYN1 were set to Multiple congenital abnormalities; absent kidneys; cardiac; limb; vertebral
Review for gene: NADSYN1 was set to GREEN
Added comment: Five individuals from four unrelated families.
Sources: Literature
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.30 EXOC3L2 Zornitza Stark Marked gene: EXOC3L2 as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.30 EXOC3L2 Zornitza Stark Gene: exoc3l2 has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.30 EXOC3L2 Zornitza Stark Classified gene: EXOC3L2 as Green List (high evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.30 EXOC3L2 Zornitza Stark Gene: exoc3l2 has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.29 EXOC3L2 Zornitza Stark gene: EXOC3L2 was added
gene: EXOC3L2 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS. Sources: Literature
Mode of inheritance for gene: EXOC3L2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EXOC3L2 were set to 30327448; 28749478; 27894351
Phenotypes for gene: EXOC3L2 were set to Dandy-Walker malformation; renal dysplasia; bone marrow failure
Review for gene: EXOC3L2 was set to GREEN
Added comment: Four individuals from two unrelated families with brain, kidney and bone marrow abnormalities; another described as part of fetal autopsy series, and another in a ciliopathy cohort.
Sources: Literature
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.28 CEP55 Zornitza Stark Marked gene: CEP55 as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.28 CEP55 Zornitza Stark Gene: cep55 has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.28 CEP55 Zornitza Stark Classified gene: CEP55 as Green List (high evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.28 CEP55 Zornitza Stark Gene: cep55 has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.27 CEP55 Zornitza Stark Publications for gene: CEP55 were set to 28295209; 28264986
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.27 CEP55 Zornitza Stark Classified gene: CEP55 as Green List (high evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.27 CEP55 Zornitza Stark Gene: cep55 has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.26 CEP55 Zornitza Stark gene: CEP55 was added
gene: CEP55 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS. Sources: Expert Review
Mode of inheritance for gene: CEP55 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CEP55 were set to 28295209; 28264986
Phenotypes for gene: CEP55 were set to Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly, MIM#236500
Review for gene: CEP55 was set to GREEN
Added comment: Two unrelated families and animal model.
Sources: Expert Review
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.25 MYOCD Zornitza Stark Marked gene: MYOCD as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.25 MYOCD Zornitza Stark Gene: myocd has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.25 MYOCD Zornitza Stark Classified gene: MYOCD as Green List (high evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.25 MYOCD Zornitza Stark Gene: myocd has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.24 MYOCD Zornitza Stark gene: MYOCD was added
gene: MYOCD was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS. Sources: Literature
Mode of inheritance for gene: MYOCD was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: MYOCD were set to 31513549
Phenotypes for gene: MYOCD were set to Megabladder; congenital heart disease; cardiomyopathy
Review for gene: MYOCD was set to GREEN
Added comment: Four unrelated families. Mono allelic disease in males (megabladder), bi-allelic disease in males and females (megabladder and congenital heart disease).
Sources: Literature
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.22 ZIC3 Zornitza Stark Marked gene: ZIC3 as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.22 ZIC3 Zornitza Stark Gene: zic3 has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.22 ZIC3 Zornitza Stark Classified gene: ZIC3 as Green List (high evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.22 ZIC3 Zornitza Stark Gene: zic3 has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.21 ZIC3 Zornitza Stark gene: ZIC3 was added
gene: ZIC3 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS. Sources: Expert list
Mode of inheritance for gene: ZIC3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ZIC3 were set to VACTERL association, X-linked, MIM#314390
Review for gene: ZIC3 was set to GREEN
Added comment: Sources: Expert list
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.20 WNT5A Zornitza Stark Marked gene: WNT5A as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.20 WNT5A Zornitza Stark Gene: wnt5a has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.20 WNT5A Zornitza Stark Classified gene: WNT5A as Green List (high evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.20 WNT5A Zornitza Stark Gene: wnt5a has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.19 WNT5A Zornitza Stark gene: WNT5A was added
gene: WNT5A was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS. Sources: Expert list
Mode of inheritance for gene: WNT5A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: WNT5A were set to Robinow syndrome, autosomal dominant 1, MIM#180700
Review for gene: WNT5A was set to GREEN
Added comment: Renal anomalies in about a quarter.
Sources: Expert list
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.18 STRA6 Zornitza Stark Marked gene: STRA6 as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.18 STRA6 Zornitza Stark Gene: stra6 has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.18 STRA6 Zornitza Stark Classified gene: STRA6 as Green List (high evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.18 STRA6 Zornitza Stark Gene: stra6 has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.17 STRA6 Zornitza Stark gene: STRA6 was added
gene: STRA6 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS. Sources: Expert list
Mode of inheritance for gene: STRA6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: STRA6 were set to Microphthalmia, isolated, with coloboma 8, MIM#601186
Review for gene: STRA6 was set to GREEN
Added comment: CAKUT is part of the phenotype
Sources: Expert list
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.16 KYNU Zornitza Stark Marked gene: KYNU as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.16 KYNU Zornitza Stark Gene: kynu has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.16 KYNU Zornitza Stark Classified gene: KYNU as Green List (high evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.16 KYNU Zornitza Stark Gene: kynu has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.15 KYNU Zornitza Stark gene: KYNU was added
gene: KYNU was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS. Sources: Expert list
Mode of inheritance for gene: KYNU was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KYNU were set to 28792876
Phenotypes for gene: KYNU were set to Vertebral, cardiac, renal, and limb defects syndrome 2, MIM#617661
Review for gene: KYNU was set to GREEN
Added comment: Two unrelated individuals plus functional data.
Sources: Expert list
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.14 HAAO Zornitza Stark Marked gene: HAAO as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.14 HAAO Zornitza Stark Gene: haao has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.14 HAAO Zornitza Stark Classified gene: HAAO as Green List (high evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.14 HAAO Zornitza Stark Gene: haao has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.13 HAAO Zornitza Stark gene: HAAO was added
gene: HAAO was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS. Sources: Expert list
Mode of inheritance for gene: HAAO was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HAAO were set to 28792876
Phenotypes for gene: HAAO were set to Vertebral, cardiac, renal, and limb defects syndrome 1, MIM#617660
Review for gene: HAAO was set to GREEN
Added comment: Two unrelated individuals, functional data.
Sources: Expert list
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.12 FGFR3 Zornitza Stark Marked gene: FGFR3 as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.12 FGFR3 Zornitza Stark Gene: fgfr3 has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.12 FGFR3 Zornitza Stark Classified gene: FGFR3 as Green List (high evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.12 FGFR3 Zornitza Stark Gene: fgfr3 has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.11 FGFR3 Zornitza Stark gene: FGFR3 was added
gene: FGFR3 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS. Sources: Expert list
Mode of inheritance for gene: FGFR3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FGFR3 were set to LADD syndrome, MIM#149730
Review for gene: FGFR3 was set to GREEN
Added comment: CAKUT is a feature of LADD syndrome.
Sources: Expert list
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.10 DACT1 Zornitza Stark Marked gene: DACT1 as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.10 DACT1 Zornitza Stark Gene: dact1 has been classified as Amber List (Moderate Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.10 DACT1 Zornitza Stark Classified gene: DACT1 as Amber List (moderate evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.10 DACT1 Zornitza Stark Gene: dact1 has been classified as Amber List (Moderate Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.9 DACT1 Zornitza Stark gene: DACT1 was added
gene: DACT1 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS. Sources: Expert list
Mode of inheritance for gene: DACT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DACT1 were set to 28054444
Phenotypes for gene: DACT1 were set to Townes-Brocks syndrome 2, MIM#617466
Review for gene: DACT1 was set to AMBER
Added comment: Single multigenerational family with a heterozygous variant in this gene and features of TBS including CAKUT.
Sources: Expert list
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.8 COQ7 Zornitza Stark Marked gene: COQ7 as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.8 COQ7 Zornitza Stark Gene: coq7 has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.8 COQ7 Zornitza Stark Classified gene: COQ7 as Green List (high evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.8 COQ7 Zornitza Stark Gene: coq7 has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.7 COQ7 Zornitza Stark gene: COQ7 was added
gene: COQ7 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS. Sources: Expert list
Mode of inheritance for gene: COQ7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COQ7 were set to 31240163; 28409910; 26084283
Phenotypes for gene: COQ7 were set to Coenzyme Q10 deficiency, primary, 8, MIM#616733
Review for gene: COQ7 was set to GREEN
Added comment: Three individuals described in the literature, renal disease prominent in at least two.
Sources: Expert list
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.6 CENPF Zornitza Stark Marked gene: CENPF as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.6 CENPF Zornitza Stark Gene: cenpf has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.6 CENPF Zornitza Stark Classified gene: CENPF as Green List (high evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.6 CENPF Zornitza Stark Gene: cenpf has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.5 CENPF Zornitza Stark gene: CENPF was added
gene: CENPF was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS. Sources: Expert list
Mode of inheritance for gene: CENPF was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CENPF were set to Stromme syndrome, MIM#243605
Review for gene: CENPF was set to GREEN
Added comment: CAKUT is part of the phenotype.
Sources: Expert list
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.4 EZH2 Zornitza Stark Marked gene: EZH2 as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.4 EZH2 Zornitza Stark Gene: ezh2 has been classified as Red List (Low Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.4 EZH2 Zornitza Stark Classified gene: EZH2 as Red List (low evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.4 EZH2 Zornitza Stark Gene: ezh2 has been classified as Red List (Low Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.3 FOXC1 Zornitza Stark Marked gene: FOXC1 as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.3 FOXC1 Zornitza Stark Gene: foxc1 has been classified as Red List (Low Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.3 FOXC1 Zornitza Stark Classified gene: FOXC1 as Red List (low evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.3 FOXC1 Zornitza Stark Gene: foxc1 has been classified as Red List (Low Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.2 SEMA3A Zornitza Stark Marked gene: SEMA3A as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.2 SEMA3A Zornitza Stark Gene: sema3a has been classified as Red List (Low Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.2 SEMA3A Zornitza Stark Classified gene: SEMA3A as Red List (low evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.2 SEMA3A Zornitza Stark Gene: sema3a has been classified as Red List (Low Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.2 SEMA3A Zornitza Stark Classified gene: SEMA3A as Red List (low evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.2 SEMA3A Zornitza Stark Gene: sema3a has been classified as Red List (Low Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.1 SEMA3A Zornitza Stark Classified gene: SEMA3A as Red List (low evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.1 SEMA3A Zornitza Stark Gene: sema3a has been classified as Red List (Low Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.1 SEMA3A Zornitza Stark Classified gene: SEMA3A as Red List (low evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.1 SEMA3A Zornitza Stark Gene: sema3a has been classified as Red List (Low Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.0 SEMA3A Chirag Patel reviewed gene: SEMA3A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.0 FOXC1 Chirag Patel reviewed gene: FOXC1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.0 EZH2 Chirag Patel reviewed gene: EZH2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.0 TFAP2A Zornitza Stark gene: TFAP2A was added
gene: TFAP2A was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TFAP2A was set to Unknown
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.0 SIX5 Zornitza Stark gene: SIX5 was added
gene: SIX5 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SIX5 was set to Unknown
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.0 SIX1 Zornitza Stark gene: SIX1 was added
gene: SIX1 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SIX1 was set to Unknown
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.0 SEMA3A Zornitza Stark gene: SEMA3A was added
gene: SEMA3A was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SEMA3A was set to Unknown
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.0 SALL4 Zornitza Stark gene: SALL4 was added
gene: SALL4 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SALL4 was set to Unknown
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.0 SALL1 Zornitza Stark gene: SALL1 was added
gene: SALL1 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SALL1 was set to Unknown
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.0 ROR2 Zornitza Stark gene: ROR2 was added
gene: ROR2 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ROR2 was set to Unknown
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.0 PBX1 Zornitza Stark gene: PBX1 was added
gene: PBX1 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PBX1 was set to Unknown
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.0 NOTCH2 Zornitza Stark gene: NOTCH2 was added
gene: NOTCH2 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NOTCH2 was set to Unknown
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.0 NIPBL Zornitza Stark gene: NIPBL was added
gene: NIPBL was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NIPBL was set to Unknown
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.0 LRP4 Zornitza Stark gene: LRP4 was added
gene: LRP4 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: LRP4 was set to Unknown
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.0 KMT2D Zornitza Stark gene: KMT2D was added
gene: KMT2D was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: KMT2D was set to Unknown
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.0 KDM6A Zornitza Stark gene: KDM6A was added
gene: KDM6A was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: KDM6A was set to Unknown
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.0 JAG1 Zornitza Stark gene: JAG1 was added
gene: JAG1 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: JAG1 was set to Unknown
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.0 HOXA13 Zornitza Stark gene: HOXA13 was added
gene: HOXA13 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: HOXA13 was set to Unknown
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.0 GRIP1 Zornitza Stark gene: GRIP1 was added
gene: GRIP1 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GRIP1 was set to Unknown
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.0 GPC3 Zornitza Stark gene: GPC3 was added
gene: GPC3 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GPC3 was set to Unknown
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.0 GLI3 Zornitza Stark gene: GLI3 was added
gene: GLI3 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GLI3 was set to Unknown
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.0 FREM2 Zornitza Stark gene: FREM2 was added
gene: FREM2 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FREM2 was set to Unknown
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.0 FREM1 Zornitza Stark gene: FREM1 was added
gene: FREM1 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FREM1 was set to Unknown
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.0 FRAS1 Zornitza Stark gene: FRAS1 was added
gene: FRAS1 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FRAS1 was set to Unknown
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.0 FOXC2 Zornitza Stark gene: FOXC2 was added
gene: FOXC2 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FOXC2 was set to Unknown
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.0 FOXC1 Zornitza Stark gene: FOXC1 was added
gene: FOXC1 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FOXC1 was set to Unknown
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.0 FGFR2 Zornitza Stark gene: FGFR2 was added
gene: FGFR2 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FGFR2 was set to Unknown
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.0 FGF10 Zornitza Stark gene: FGF10 was added
gene: FGF10 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FGF10 was set to Unknown
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.0 EZH2 Zornitza Stark gene: EZH2 was added
gene: EZH2 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: EZH2 was set to Unknown
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.0 EYA1 Zornitza Stark gene: EYA1 was added
gene: EYA1 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: EYA1 was set to Unknown
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.0 DHCR7 Zornitza Stark gene: DHCR7 was added
gene: DHCR7 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DHCR7 was set to Unknown
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.0 CTU2 Zornitza Stark gene: CTU2 was added
gene: CTU2 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CTU2 was set to Unknown
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.0 CHD7 Zornitza Stark gene: CHD7 was added
gene: CHD7 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CHD7 was set to Unknown
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.0 FAM58A Zornitza Stark gene: FAM58A was added
gene: FAM58A was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FAM58A was set to Unknown
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.0 BMP4 Zornitza Stark gene: BMP4 was added
gene: BMP4 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: BMP4 was set to Unknown
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.0 ANOS1 Zornitza Stark gene: ANOS1 was added
gene: ANOS1 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ANOS1 was set to Unknown
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.0 Zornitza Stark Added panel Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS