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Ciliopathies v1.54 FUZ Zornitza Stark Marked gene: FUZ as ready
Ciliopathies v1.54 FUZ Zornitza Stark Gene: fuz has been classified as Green List (High Evidence).
Ciliopathies v1.54 FUZ Zornitza Stark Phenotypes for gene: FUZ were changed from Ciliopathy_MONDO_0005308; skeletal ciliopathy to Ciliopathy_MONDO_0005308, FUZ-related; skeletal ciliopathy
Ciliopathies v1.53 FUZ Chirag Patel Classified gene: FUZ as Green List (high evidence)
Ciliopathies v1.53 FUZ Chirag Patel Gene: fuz has been classified as Green List (High Evidence).
Ciliopathies v1.52 FUZ Chirag Patel gene: FUZ was added
gene: FUZ was added to Ciliopathies. Sources: Literature
Mode of inheritance for gene: FUZ was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FUZ were set to PMID: 38702430, 29068549, 34719684
Phenotypes for gene: FUZ were set to Ciliopathy_MONDO_0005308; skeletal ciliopathy
Review for gene: FUZ was set to GREEN
gene: FUZ was marked as current diagnostic
Added comment: FUZ is crucial for the transport of components to the primary cilium and potentially promotes protein complex assembly necessary for downstream cilium formation and function. Previous studies have shown complete knockout of Fuz in a mouse model leads to prenatal lethality, coronal craniosynostosis, micrognathia, facial malformations, eye, and heart defects. Suggested as a skeletal ciliopathy disorder gene.

PMID: 38702430
1 individual (from family with 2 affecteds) with orofaciodigital syndrome like phenotype (dysmorphism, bilateral foot preaxial polysyndactyly, right foot postaxial polysyndactyly, broad thumbs, bilateral 5th finger clinodactyly narrow chest, partial AVSD). They found a homozygous missense variant in FUZ [p.(Glu201Lys)]. Parents were heterozygous carriers. A sibling died at 18mths and had complete AVSD, bilateral cleft lip and palate, right 5th finger clinodactyly, and medially deviated/broad great toes.

1 fetus with orofaciodigital syndrome like phenotype (right cleft lip, 4 limb polydactyly, bilateral duplicated hallux, and AVSD). They found compound heterozygous variants in FUZ [p.(Val209_Leu212del) and p.(Glu201Lys)].

PMID: 29068549
1 fetus with lethal short-rib polydactyly syndrome II-like phenotype and a homozygous variant (c.98_111+9del) in FUZ.
1 individual with asphyxiating thoracic dystrophy (ATD) with polydactyly and a (unclear if homozygous) missense variant [p.(Arg284Leu)] in FUZ.

PMID: 34719684
Monozygotic twins with craniosynostosis (1 x metopic, 1 x metopic/coronal) and a homozygous missense variant in FUZ [p.(Arg284Pro)]. They cultured primary osteoblasts and mouse embryonic fibroblasts from Fuz mutant mice. Loss of Fuz resulted in increased osteoblastic mineralisation, suggesting that the FUZ protein normally acts as a negative regulator of osteogenesis.
Sources: Literature
Ciliopathies v1.51 NEK1 Zornitza Stark Phenotypes for gene: NEK1 were changed from Short-rib thoracic dysplasia 6 with or without polydactyly, MIM# 263520 to Short-rib thoracic dysplasia 6 with or without polydactyly, MIM# 263520; Orofaciodigital syndrome II , MIM# 252100
Ciliopathies v1.50 NEK1 Zornitza Stark Publications for gene: NEK1 were set to 21211617; 22499340; 25492405; 28123176
Ciliopathies v1.49 NEK1 Zornitza Stark edited their review of gene: NEK1: Added comment: PMID 27530628: two brothers with OFD phenotype.; Changed publications: 21211617, 22499340, 25492405, 28123176, 27530628; Changed phenotypes: Short-rib thoracic dysplasia 6 with or without polydactyly, MIM# 263520, Orofaciodigital syndrome II , MIM# 252100
Ciliopathies v1.49 RAB34 Zornitza Stark Phenotypes for gene: RAB34 were changed from Multiple congenital anomalies, (MONDO:0019042), RAB34-related to Orofaciodigital syndrome 20, MIM#620718
Ciliopathies v1.48 DLG5 Zornitza Stark Phenotypes for gene: DLG5 were changed from Ciliopathy, MONDO:0016044, DLG5-related; Cystic kidneys, nephrotic syndrome, hydrocephalus, limb abnormalities, congenital heart disease and craniofacial malformations to Yuksel-Vogel-Bauer syndrome, MIM#620703
Ciliopathies v1.47 DLG5 Zornitza Stark edited their review of gene: DLG5: Changed phenotypes: Yuksel-Vogel-Bauer syndrome, MIM#620703
Ciliopathies v1.47 DLG5 Zornitza Stark changed review comment from: Four unrelated families reported, supportive Xenopus animal model data.
Sources: Literature; to: Four unrelated families reported, supportive Xenopus animal model data. Cystic kidneys, nephrotic syndrome, hydrocephalus, limb abnormalities, congenital heart disease and craniofacial malformations.
Sources: Literature
Ciliopathies v1.47 WDR44 Seb Lunke Marked gene: WDR44 as ready
Ciliopathies v1.47 WDR44 Seb Lunke Added comment: Comment when marking as ready: GoF mentioned but not well supported.
Ciliopathies v1.47 WDR44 Seb Lunke Gene: wdr44 has been classified as Green List (High Evidence).
Ciliopathies v1.47 WDR44 Seb Lunke Classified gene: WDR44 as Green List (high evidence)
Ciliopathies v1.47 WDR44 Seb Lunke Gene: wdr44 has been classified as Green List (High Evidence).
Ciliopathies v1.46 WDR44 Andrew Fennell changed review comment from: 11 male patients with 6 missense and 1 nonsense variant in WDR44 displaying a wide range of cognitive impairment and variable congenital anomalies associated with primary cilium dysfunction. All patients had learning difficulties with 8 labelled as intellectually disabled (mild-moderate). Other clinical features included anomalies of craniofacial, musculoskeletal, brain, renal and cardiac development.
WDR44 is a negative regulator of ciliogenesis. Increased binding is hypothesised to underlie the pathogenicity of WDR44 variants identified in this cohort. Functional data supported impaired ciliogenesis initiation in patient fibroblasts and a zebrafish model. A zebrafish model recaptulated 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; to: 11 male patients with 6 missense and 1 nonsense variant in WDR44 displaying a wide range of cognitive impairment and variable congenital anomalies associated with primary cilium dysfunction. All patients had learning difficulties with 8 labelled as intellectually disabled (mild-moderate). Other clinical features included anomalies of craniofacial, musculoskeletal, brain, renal and cardiac development.
WDR44 is a negative regulator of ciliogenesis. Increased binding is hypothesised to underlie the pathogenicity of WDR44 variants identified in this cohort. Functional data supported impaired ciliogenesis initiation in patient fibroblasts and a zebrafish model. A zebrafish model recapitulated the human phenotype when morphants expressed WDR44 L668S, D669N, S764F, G782C, H839R, and R733* variants. Of note, D648G or N840S did not recapitulate the phenotype in the zebrafish model.
The studies supported a GoF mechanism, but the authors could not rule out that LoF of WDR44 contributes to the ciliopathy-like phenotype observed, because protein expression data was only available for a limited number of patients.
Sources: Literature
Ciliopathies v1.46 WDR44 Andrew Fennell gene: WDR44 was added
gene: WDR44 was added to Ciliopathies. Sources: Literature
Mode of inheritance for gene: WDR44 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: WDR44 were set to PMID: 38191484
Phenotypes for gene: WDR44 were set to Ciliopathy, MONDO:0005308, WDR44-related
Review for gene: WDR44 was set to GREEN
Added comment: 11 male patients with 6 missense and 1 nonsense variant in WDR44 displaying a wide range of cognitive impairment and variable congenital anomalies associated with primary cilium dysfunction. All patients had learning difficulties with 8 labelled as intellectually disabled (mild-moderate). Other clinical features included anomalies of craniofacial, musculoskeletal, brain, renal and cardiac development.
WDR44 is a negative regulator of ciliogenesis. Increased binding is hypothesised to underlie the pathogenicity of WDR44 variants identified in this cohort. Functional data supported impaired ciliogenesis initiation in patient fibroblasts and a zebrafish model. A zebrafish model recaptulated 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
Ciliopathies v1.46 DLG5 Zornitza Stark Phenotypes for gene: DLG5 were changed from Cystic kidneys, nephrotic syndrome, hydrocephalus, limb abnormalities, congenital heart disease and craniofacial malformations to Ciliopathy, MONDO:0016044, DLG5-related; Cystic kidneys, nephrotic syndrome, hydrocephalus, limb abnormalities, congenital heart disease and craniofacial malformations
Ciliopathies v1.45 RAB34 Zornitza Stark Marked gene: RAB34 as ready
Ciliopathies v1.45 RAB34 Zornitza Stark Gene: rab34 has been classified as Green List (High Evidence).
Ciliopathies v1.45 RAB34 Zornitza Stark Classified gene: RAB34 as Green List (high evidence)
Ciliopathies v1.45 RAB34 Zornitza Stark Gene: rab34 has been classified as Green List (High Evidence).
Ciliopathies v1.44 RAB34 Melanie Marty gene: RAB34 was added
gene: RAB34 was added to Ciliopathies. Sources: Literature
Mode of inheritance for gene: RAB34 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RAB34 were set to PMID: 37619988; PMID: 37384395
Phenotypes for gene: RAB34 were set to Multiple congenital anomalies, (MONDO:0019042), RAB34-related
Review for gene: RAB34 was set to GREEN
Added comment: PMID: 37619988 Compound heterozygous variants identified in RAB34 in a fetus with multiple malformations, including posterior neck edema, micrognathia, low-set and small ears, auricular hypoplasia, cleft lip and palate, short extremities, and a combination of rarely occurring pre- and postaxial polydactyly.

PMID: 37384395 Biallelic variants in RAB34 were identified in 3 unrelated families. Affected individuals presented a novel form of OFDS accompanied by cardiac, cerebral, skeletal (eg. Shortening of long bones), and anorectal defects. Onset is prenatal (multiple developmental defects including short femur, polydactyly, heart malformations, kidney malformations, and brain malformations), resulting in medical termination for three probands.
Sources: Literature
Ciliopathies v1.44 INTS13 Zornitza Stark Marked gene: INTS13 as ready
Ciliopathies v1.44 INTS13 Zornitza Stark Gene: ints13 has been classified as Green List (High Evidence).
Ciliopathies v1.44 INTS13 Zornitza Stark Phenotypes for gene: INTS13 were changed from Oral-facial-digital syndrome to Oral-facial-digital syndrome, MONDO:0015375, INTS13-related
Ciliopathies v1.43 INTS13 Chirag Patel Classified gene: INTS13 as Green List (high evidence)
Ciliopathies v1.43 INTS13 Chirag Patel Gene: ints13 has been classified as Green List (High Evidence).
Ciliopathies v1.42 INTS13 Chirag Patel gene: INTS13 was added
gene: INTS13 was added to Ciliopathies. Sources: Literature
Mode of inheritance for gene: INTS13 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: INTS13 were set to PMID: 36229431
Phenotypes for gene: INTS13 were set to Oral-facial-digital syndrome
Review for gene: INTS13 was set to GREEN
gene: INTS13 was marked as current diagnostic
Added comment: 2 families with 4 affected individuals with Oral-facial-digital (OFD) phenotype. Homozygosity mapping and WES found 2 homozygous variants in INTS13 gene. This is a subunit of the Integrator complex, which associates with RNA Polymerase II and cleaves nascent RNA to modulate gene expression. Variants segregated with disease. Depletion of INTS13 disrupts ciliogenesis in human cultured cells and causes dysregulation of a broad collection of ciliary genes. Knockdown in Xenopus embryos leads to motile cilia anomalies.
Sources: Literature
Ciliopathies v1.41 Zornitza Stark List of related panels changed from to Ciliopathy; MONDO:0005308
Ciliopathies v1.40 ADAMTS9 Zornitza Stark Phenotypes for gene: ADAMTS9 were changed from Nephronophthisis-Related Ciliopathy to Nephropathy-related ciliopathy, MONDO:0022409, ADAMTS9-related
Ciliopathies v1.39 ADAMTS9 Chirag Patel Classified gene: ADAMTS9 as Amber List (moderate evidence)
Ciliopathies v1.39 ADAMTS9 Chirag Patel Gene: adamts9 has been classified as Amber List (Moderate Evidence).
Ciliopathies v1.38 ADAMTS9 Chirag Patel reviewed gene: ADAMTS9: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Ciliopathies v1.38 DCDC2 Chirag Patel Classified gene: DCDC2 as Green List (high evidence)
Ciliopathies v1.38 DCDC2 Chirag Patel Gene: dcdc2 has been classified as Green List (High Evidence).
Ciliopathies v1.37 DCDC2 Chirag Patel reviewed gene: DCDC2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27469900, 25557784, 31821705; Phenotypes: Nephronophthisis 19, MIM# 616217, Sclerosing cholangitis, neonatal, MIM# 617394; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v1.37 PDIA6 Chirag Patel reviewed gene: PDIA6: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 35856135; Phenotypes: Polycystic kidney disease, infancy-onset diabetes, and microcephaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v1.37 SCNM1 Zornitza Stark Phenotypes for gene: SCNM1 were changed from Ciliopathy, SCNM1-related, MONDO:0005308 to Orofaciodigital syndrome XIX, MIM# 620107
Ciliopathies v1.36 SCNM1 Zornitza Stark reviewed gene: SCNM1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Orofaciodigital syndrome XIX, MIM# 620107; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v1.36 SCNM1 Zornitza Stark Marked gene: SCNM1 as ready
Ciliopathies v1.36 SCNM1 Zornitza Stark Gene: scnm1 has been classified as Green List (High Evidence).
Ciliopathies v1.36 SCNM1 Zornitza Stark Classified gene: SCNM1 as Green List (high evidence)
Ciliopathies v1.36 SCNM1 Zornitza Stark Gene: scnm1 has been classified as Green List (High Evidence).
Ciliopathies v1.35 SCNM1 Elena Savva gene: SCNM1 was added
gene: SCNM1 was added to Ciliopathies. Sources: Literature
Mode of inheritance for gene: SCNM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SCNM1 were set to PMID: 36084634
Phenotypes for gene: SCNM1 were set to Ciliopathy, SCNM1-related, MONDO:0005308
Review for gene: SCNM1 was set to GREEN
Added comment: Iturrate (2022): three unrelated families (4 affected) w/ OFD, polydactyly, syndactyly and brachydactyly. All had biallelic variants (fs, missense, AluYc1 sequence insertion) and were consanguinous
- the missense variant was shown to have a splice outcome
Sources: Literature
Ciliopathies v1.34 TMEM218 Zornitza Stark Marked gene: TMEM218 as ready
Ciliopathies v1.34 TMEM218 Zornitza Stark Gene: tmem218 has been classified as Green List (High Evidence).
Ciliopathies v1.34 TMEM218 Zornitza Stark Classified gene: TMEM218 as Green List (high evidence)
Ciliopathies v1.34 TMEM218 Zornitza Stark Gene: tmem218 has been classified as Green List (High Evidence).
Ciliopathies v1.33 TMEM218 Zornitza Stark gene: TMEM218 was added
gene: TMEM218 was added to Ciliopathies. Sources: Expert Review
Mode of inheritance for gene: TMEM218 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM218 were set to 35137054; 33791682
Phenotypes for gene: TMEM218 were set to Joubert syndrome 39, MIM#619562; retinal dystrophy; polycystic kidneys; occipital encephalocele
Review for gene: TMEM218 was set to GREEN
Added comment: More than 3 unrelated families reported, with a range of ciliopathy phenotypes, including Joubert syndrome, MKS and BBS.
Sources: Expert Review
Ciliopathies v1.32 SLC30A7 Alison Yeung Marked gene: SLC30A7 as ready
Ciliopathies v1.32 SLC30A7 Alison Yeung Gene: slc30a7 has been classified as Amber List (Moderate Evidence).
Ciliopathies v1.32 SLC30A7 Alison Yeung Classified gene: SLC30A7 as Amber List (moderate evidence)
Ciliopathies v1.32 SLC30A7 Alison Yeung Gene: slc30a7 has been classified as Amber List (Moderate Evidence).
Ciliopathies v1.31 SLC30A7 Naomi Baker gene: SLC30A7 was added
gene: SLC30A7 was added to Ciliopathies. Sources: Literature
Mode of inheritance for gene: SLC30A7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SLC30A7 were set to PMID: 35751429
Phenotypes for gene: SLC30A7 were set to Joubert syndrome (MONDO:0018772), SLC30A7-related
Review for gene: SLC30A7 was set to AMBER
Added comment: PMID: 35751429: Two individuals reported with de novo variants, one missense and one delins resulting in missense. The first individual is a female with history of unilateral postaxial polydactyly, classic molar tooth sign on MRI, macrocephaly, ataxia, ocular motor apraxia, neurodevelopmental delay, and precocious puberty. The second individual had bilateral postaxial polydactyly, molar tooth sign, macrocephaly, developmental delay, and an extra oral frenulum. No functional studies reported.
Sources: Literature
Ciliopathies v1.31 NEK8 Zornitza Stark Phenotypes for gene: NEK8 were changed from Renal-hepatic-pancreatic dysplasia 2, MIM# 615415; MONDO:0014174 to Renal-hepatic-pancreatic dysplasia 2, MIM# 615415; MONDO:0014174; Familial renal cystic disease MONDO:0019741, NEK8-related, dominant
Ciliopathies v1.30 NEK8 Zornitza Stark Mode of inheritance for gene: NEK8 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Ciliopathies v1.29 NEK8 Zornitza Stark edited their review of gene: NEK8: Added comment: ESHG 2022:
12 families with paediatric renal cystic disease (enlarged kidneys, kidney cysts, ESKF <20yrs) -3 recurrent HTZ variants in NEK8 kinase domain (Arg45Trp, Ile150Met, Lys157Gln) -suspected dominant negative effect -patient fibroblasts show normal ciliogenesis and normal localisation and expression of NEK8 (Note carriers of AR-NEK8 disease do not show renal manifestations, as variants are LOF); Changed phenotypes: Renal-hepatic-pancreatic dysplasia 2, MIM# 615415, MONDO:0014174, Familial renal cystic disease MONDO:0019741, NEK8-related, dominant; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Ciliopathies v1.29 ZNF423 Zornitza Stark Phenotypes for gene: ZNF423 were changed from Joubert syndrome 19, OMIM# 614844 to Joubert syndrome 19, OMIM# 614844; Nephronophthisis 14, OMIM:614844
Ciliopathies v1.28 TXNDC15 Zornitza Stark Phenotypes for gene: TXNDC15 were changed from Meckel-Gruber syndrome to Meckel syndrome 14, MIM# 619879
Ciliopathies v1.27 TXNDC15 Zornitza Stark reviewed gene: TXNDC15: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Meckel syndrome 14, MIM# 619879; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v1.27 ZNF423 Arina Puzriakova reviewed gene: ZNF423: Rating: ; Mode of pathogenicity: None; Publications: 22863007, 32925911, 33323469; Phenotypes: Joubert syndrome 19, OMIM:614844, Nephronophthisis 14, OMIM:614844; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Ciliopathies v1.27 SUFU Zornitza Stark Phenotypes for gene: SUFU were changed from Joubert syndrome 32, MIM#617757 to Joubert syndrome 32, MIM#617757; SUFU-related neurodevelopmental disorder, Joubert-like
Ciliopathies v1.26 SUFU Zornitza Stark Publications for gene: SUFU were set to 28965847
Ciliopathies v1.25 SUFU Zornitza Stark Mode of inheritance for gene: SUFU was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Ciliopathies v1.24 SUFU Zornitza Stark Classified gene: SUFU as Green List (high evidence)
Ciliopathies v1.24 SUFU Zornitza Stark Gene: sufu has been classified as Green List (High Evidence).
Ciliopathies v1.23 SUFU Zornitza Stark edited their review of gene: SUFU: Added comment: Further 22 individuals reported with LoF variants in SUFU and a phenotype described as being on the mild end of JS. Clinical features included congenital oculomotor apraxia, hypotonia, ataxia and mild DD, and only a third manifested intellectual disability of variable severity. Brain MRI showed consistent findings characterised by vermis hypoplasia, superior cerebellar dysplasia and subtle-to-mild abnormalities of the superior cerebellar peduncles.; Changed rating: GREEN; Changed publications: 28965847, 34675124; Changed phenotypes: Joubert syndrome 32, MIM#617757, SUFU-related neurodevelopmental disorder, Joubert-like; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Ciliopathies v1.23 GRK2 Zornitza Stark Phenotypes for gene: GRK2 were changed from Jeune asphyxiating thoracic dystrophy (ATD) to Jeune asphyxiating thoracic dystrophy (ATD), MONDO:0018770
Ciliopathies v1.22 IFT140 Zornitza Stark edited their review of gene: IFT140: Changed phenotypes: Cystic Kidney Disease, MONDO: 0002473, IFT140-associated, dominant, Short-rib thoracic dysplasia 9 with or without polydactyly, MIM# 266920, Retinitis pigmentosa 80, MIM# 617781
Ciliopathies v1.22 IFT140 Zornitza Stark Phenotypes for gene: IFT140 were changed from Short-rib thoracic dysplasia 9 with or without polydactyly, MIM# 266920; MONDO:0009964; Retinitis pigmentosa 80, MIM# 617781 to Short-rib thoracic dysplasia 9 with or without polydactyly, MIM# 266920; MONDO:0009964; Retinitis pigmentosa 80, MIM# 617781; Cystic Kidney Disease, MONDO: 0002473, IFT140-associated, dominant
Ciliopathies v1.21 IFT140 Zornitza Stark Publications for gene: IFT140 were set to 22503633; 23418020; 28288023; 28724397; 26216056; 26968735
Ciliopathies v1.20 IFT140 Zornitza Stark Mode of inheritance for gene: IFT140 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Ciliopathies v1.19 IFT140 Zornitza Stark edited their review of gene: IFT140: Added comment: PMID 34890546: Monoallelic variants described in 12 unrelated families with mild PKD associated with mild PKD with large cysts, limited kidney insufficiency, and few liver cysts.

Bilallelic variants associated with Short-rib thoracic dysplasia 9 with or without polydactyly, MIM# 266920; Retinitis pigmentosa 80, MIM# 617781; Changed publications: 22503633, 23418020, 28288023, 28724397, 26216056, 26968735, 34890546; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Ciliopathies v1.19 TOPORS Seb Lunke Phenotypes for gene: TOPORS were changed from Retinitis pigmentosa 31 (MIM#609923) to ciliopathy, MONDO:0005308, TOPORS-associated; postaxial polydactyly, MONDO:0020927, TOPORS-related; multiple lingual hamartomas
Ciliopathies v1.18 TOPORS Seb Lunke Publications for gene: TOPORS were set to 21159800; 17924349; 28453362; 18509552
Ciliopathies v1.17 TOPORS Seb Lunke Mode of inheritance for gene: TOPORS was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v1.16 TOPORS Seb Lunke Classified gene: TOPORS as Amber List (moderate evidence)
Ciliopathies v1.16 TOPORS Seb Lunke Added comment: Comment on list classification: Amber for recessive ciliopathy
Ciliopathies v1.16 TOPORS Seb Lunke Gene: topors has been classified as Amber List (Moderate Evidence).
Ciliopathies v1.15 TOPORS Dean Phelan reviewed gene: TOPORS: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID:34132027; Phenotypes: MONDO:0005308, ciliopathy, postaxial polydactyly, multiple lingual hamartomas, dysmorphic features; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v1.15 TBC1D32 Zornitza Stark Publications for gene: TBC1D32 were set to 24285566; 32573025; 32060556
Ciliopathies v1.14 TBC1D32 Zornitza Stark Classified gene: TBC1D32 as Green List (high evidence)
Ciliopathies v1.14 TBC1D32 Zornitza Stark Gene: tbc1d32 has been classified as Green List (High Evidence).
Ciliopathies v1.13 TBC1D32 Zornitza Stark edited their review of gene: TBC1D32: Added comment: Three reported families with ciliopathy phenotype.; Changed rating: GREEN; Changed publications: 24285566, 32573025, 32060556, 31130284
Ciliopathies v1.13 IFT74 Zornitza Stark Phenotypes for gene: IFT74 were changed from Bardet-Biedl syndrome 20, MIM# 617119; Joubert syndrome to Bardet-Biedl syndrome 20, MIM# 617119; Joubert syndrome 40, MIM# 619582
Ciliopathies v1.12 IFT74 Zornitza Stark edited their review of gene: IFT74: Changed phenotypes: Bardet-Biedl syndrome 20, MIM# 617119, Joubert syndrome 40, MIM# 619582
Ciliopathies v1.12 TTC26 Zornitza Stark Phenotypes for gene: TTC26 were changed from Ciliopathy Syndrome with Biliary, Renal, Neurological, and Skeletal Manifestations to Biliary, renal, neurologic, and skeletal syndrome, MIM# 619534; Ciliopathy Syndrome with Biliary, Renal, Neurological, and Skeletal Manifestations
Ciliopathies v1.11 TTC26 Zornitza Stark edited their review of gene: TTC26: Changed phenotypes: Biliary, renal, neurologic, and skeletal syndrome, MIM# 619534, Ciliopathy Syndrome with Biliary, Renal, Neurological, and Skeletal Manifestations
Ciliopathies v1.11 PDE6D Zornitza Stark Classified gene: PDE6D as Green List (high evidence)
Ciliopathies v1.11 PDE6D Zornitza Stark Gene: pde6d has been classified as Green List (High Evidence).
Ciliopathies v1.10 PDE6D Zornitza Stark changed review comment from: Comment when marking as ready: Second family identified PMID 30423442; to: Comment when marking as ready: Second family identified PMID 30423442. Good functional data.
Ciliopathies v1.10 PDE6D Zornitza Stark edited their review of gene: PDE6D: Changed rating: GREEN
Ciliopathies v1.10 KIAA0753 Zornitza Stark Phenotypes for gene: KIAA0753 were changed from Orofaciodigital syndrome XV 617127; Joubert syndrome 38, MIM# 619476 to Orofaciodigital syndrome XV 617127; Joubert syndrome 38, MIM# 619476; Short-rib thoracic dysplasia 21 without polydactyly, MIM# 619479
Ciliopathies v1.9 KIAA0753 Zornitza Stark Publications for gene: KIAA0753 were set to 31816441; 28220259; 29138412; 26643951
Ciliopathies v1.8 KIAA0753 Zornitza Stark edited their review of gene: KIAA0753: Added comment: At least 5 families reported with a skeletal ciliopathy.; Changed rating: GREEN; Changed publications: 29138412, 31816441, 33875766, 34016807; Changed phenotypes: Short-rib thoracic dysplasia 21 without polydactyly, MIM# 619479; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v1.8 KIAA0753 Zornitza Stark Phenotypes for gene: KIAA0753 were changed from Orofaciodigital syndrome XV 617127; Joubert syndrome to Orofaciodigital syndrome XV 617127; Joubert syndrome 38, MIM# 619476
Ciliopathies v1.7 IFT172 Zornitza Stark Phenotypes for gene: IFT172 were changed from Bardet-Biedl syndrome; Retinitis pigmentosa 71, MIM# 616394; Short-rib thoracic dysplasia 10 with or without polydactyly, MIM# 615630 to Bardet-Biedl syndrome 20, MIM# 619471; Retinitis pigmentosa 71, MIM# 616394; Short-rib thoracic dysplasia 10 with or without polydactyly, MIM# 615630
Ciliopathies v1.6 IFT172 Zornitza Stark changed review comment from: Three families reported with a BBS phenotype, although this association is not listed in OMIM or MONDO.
More than 10 families reported with skeletal ciliopathy and 3 with RP. Supportive zebrafish models.; to: Three families reported with a BBS phenotype.
More than 10 families reported with skeletal ciliopathy and 3 with RP. Supportive zebrafish models.
Ciliopathies v1.6 IFT172 Zornitza Stark edited their review of gene: IFT172: Changed phenotypes: Bardet-Biedl syndrome 20, MIM# 619471, Retinitis pigmentosa 71, MIM# 616394, Short-rib thoracic dysplasia 10 with or without polydactyly, MIM# 615630
Ciliopathies v1.6 IFT140 Zornitza Stark Phenotypes for gene: IFT140 were changed from Short-rib thoracic dysplasia 9 with or without polydactyly, MIM# 266920; Retinitis pigmentosa 80, MIM# 617781 to Short-rib thoracic dysplasia 9 with or without polydactyly, MIM# 266920; MONDO:0009964; Retinitis pigmentosa 80, MIM# 617781
Ciliopathies v1.5 IFT122 Zornitza Stark Phenotypes for gene: IFT122 were changed from Cranioectodermal dysplasia 1, MIM# 218330; Beemer-Langer syndrome to Cranioectodermal dysplasia 1, MIM# 218330; MONDO:0021093; Beemer-Langer syndrome
Ciliopathies v1.4 PDIA6 Zornitza Stark Marked gene: PDIA6 as ready
Ciliopathies v1.4 PDIA6 Zornitza Stark Gene: pdia6 has been classified as Amber List (Moderate Evidence).
Ciliopathies v1.4 PDIA6 Zornitza Stark Classified gene: PDIA6 as Amber List (moderate evidence)
Ciliopathies v1.4 PDIA6 Zornitza Stark Gene: pdia6 has been classified as Amber List (Moderate Evidence).
Ciliopathies v1.3 PDIA6 Zornitza Stark gene: PDIA6 was added
gene: PDIA6 was added to Ciliopathies. Sources: Expert Review
Mode of inheritance for gene: PDIA6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PDIA6 were set to 33495992
Phenotypes for gene: PDIA6 were set to Asphyxiating thoracic dystrophy (ATD) syndrome and infantile‐onset diabetes
Review for gene: PDIA6 was set to AMBER
Added comment: 1 case with asphyxiating thoracic dystrophy (ATD) syndrome and infantile‐onset diabetes. Whole exome sequencing revealed a homozygous frameshift variant in the PDIA6 gene. RNA expression was reduced in a gene dosage‐dependent manner, supporting a loss‐of‐function effect of this variant. Phenotypic correlation with the previously reported mouse model recapitulated the growth defect and delay, early lethality, coagulation, diabetes, immunological, and polycystic kidney disease phenotypes. The phenotype of the current patient is consistent with phenotypes associated with the disruption of PDIA6 and the sensors of UPR in mice and humans.
Sources: Expert Review
Ciliopathies v1.2 GRK2 Zornitza Stark Marked gene: GRK2 as ready
Ciliopathies v1.2 GRK2 Zornitza Stark Gene: grk2 has been classified as Amber List (Moderate Evidence).
Ciliopathies v1.2 GRK2 Zornitza Stark Classified gene: GRK2 as Amber List (moderate evidence)
Ciliopathies v1.2 GRK2 Zornitza Stark Gene: grk2 has been classified as Amber List (Moderate Evidence).
Ciliopathies v1.1 GRK2 Zornitza Stark gene: GRK2 was added
gene: GRK2 was added to Ciliopathies. Sources: Literature
Mode of inheritance for gene: GRK2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GRK2 were set to 33200460
Phenotypes for gene: GRK2 were set to Jeune asphyxiating thoracic dystrophy (ATD)
Review for gene: GRK2 was set to AMBER
Added comment: Two unrelated families reported and some functional data.
Sources: Literature
Ciliopathies v1.0 Zornitza Stark promoted panel to version 1.0
Ciliopathies v0.450 WDR60 Zornitza Stark Marked gene: WDR60 as ready
Ciliopathies v0.450 WDR60 Zornitza Stark Gene: wdr60 has been classified as Green List (High Evidence).
Ciliopathies v0.450 WDR60 Zornitza Stark Phenotypes for gene: WDR60 were changed from to Short-rib thoracic dysplasia 8 with or without polydactyly, MIM# 615503; Retinitis pigmentosa
Ciliopathies v0.449 WDR60 Zornitza Stark Publications for gene: WDR60 were set to
Ciliopathies v0.448 WDR60 Zornitza Stark Mode of inheritance for gene: WDR60 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.447 WDR60 Zornitza Stark reviewed gene: WDR60: Rating: GREEN; Mode of pathogenicity: None; Publications: 23910462, 29271569, 26874042; Phenotypes: Short-rib thoracic dysplasia 8 with or without polydactyly, MIM# 615503, Retinitis pigmentosa; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.447 WDR34 Zornitza Stark Marked gene: WDR34 as ready
Ciliopathies v0.447 WDR34 Zornitza Stark Gene: wdr34 has been classified as Green List (High Evidence).
Ciliopathies v0.447 WDR34 Zornitza Stark Phenotypes for gene: WDR34 were changed from to Short-rib thoracic dysplasia 11 with or without polydactyly, MIM# 615633; Retinitis pigmentosa
Ciliopathies v0.446 WDR34 Zornitza Stark Publications for gene: WDR34 were set to
Ciliopathies v0.445 WDR34 Zornitza Stark Mode of inheritance for gene: WDR34 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.444 WDR34 Zornitza Stark reviewed gene: WDR34: Rating: GREEN; Mode of pathogenicity: None; Publications: 24183449, 24183451, 33124039, 30649997, 29241935, 28379358; Phenotypes: Short-rib thoracic dysplasia 11 with or without polydactyly, MIM# 615633, Retinitis pigmentosa; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.444 WDR19 Zornitza Stark Marked gene: WDR19 as ready
Ciliopathies v0.444 WDR19 Zornitza Stark Gene: wdr19 has been classified as Green List (High Evidence).
Ciliopathies v0.444 WDR19 Zornitza Stark Phenotypes for gene: WDR19 were changed from to Nephronophthisis 13, MIM# 614377; Senior-Loken syndrome 8, MIM# 616307; Short-rib thoracic dysplasia 5 with or without polydactyly, MIM# 614376; Cranioectodermal dysplasia 4, MIM# 614378
Ciliopathies v0.443 WDR19 Zornitza Stark Publications for gene: WDR19 were set to
Ciliopathies v0.442 WDR19 Zornitza Stark Mode of inheritance for gene: WDR19 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.441 WDR19 Zornitza Stark reviewed gene: WDR19: Rating: GREEN; Mode of pathogenicity: None; Publications: 33946315, 33875766, 33606107, 22019273, 23559409, 23683095, 32055034; Phenotypes: Nephronophthisis 13, MIM# 614377, Senior-Loken syndrome 8, MIM# 616307, Short-rib thoracic dysplasia 5 with or without polydactyly, MIM# 614376, Cranioectodermal dysplasia 4, MIM# 614378; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.441 TXNDC15 Zornitza Stark Marked gene: TXNDC15 as ready
Ciliopathies v0.441 TXNDC15 Zornitza Stark Gene: txndc15 has been classified as Green List (High Evidence).
Ciliopathies v0.441 TXNDC15 Zornitza Stark Phenotypes for gene: TXNDC15 were changed from to Meckel-Gruber syndrome
Ciliopathies v0.440 TXNDC15 Zornitza Stark Publications for gene: TXNDC15 were set to
Ciliopathies v0.439 TXNDC15 Zornitza Stark Mode of inheritance for gene: TXNDC15 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.438 TTC8 Zornitza Stark Marked gene: TTC8 as ready
Ciliopathies v0.438 TTC8 Zornitza Stark Gene: ttc8 has been classified as Green List (High Evidence).
Ciliopathies v0.438 TTC8 Zornitza Stark Phenotypes for gene: TTC8 were changed from to Bardet-Biedl syndrome 8, MIM# 615985
Ciliopathies v0.437 TTC8 Zornitza Stark Publications for gene: TTC8 were set to
Ciliopathies v0.436 TTC8 Zornitza Stark Mode of inheritance for gene: TTC8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.435 TTC21B Zornitza Stark Marked gene: TTC21B as ready
Ciliopathies v0.435 TTC21B Zornitza Stark Gene: ttc21b has been classified as Green List (High Evidence).
Ciliopathies v0.435 TTC21B Zornitza Stark Phenotypes for gene: TTC21B were changed from to Nephronophthisis 12, MIM# 613820; Short-rib thoracic dysplasia 4 with or without polydactyly, MIM# 613819; Joubert syndrome
Ciliopathies v0.434 TTC21B Zornitza Stark Publications for gene: TTC21B were set to
Ciliopathies v0.433 TTC21B Zornitza Stark Mode of inheritance for gene: TTC21B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.432 TTC21B Zornitza Stark reviewed gene: TTC21B: Rating: GREEN; Mode of pathogenicity: None; Publications: 21258341, 25492405, 18327258, 33875766; Phenotypes: Nephronophthisis 12, MIM# 613820, Short-rib thoracic dysplasia 4 with or without polydactyly, MIM# 613819; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.432 TRAF3IP1 Zornitza Stark Marked gene: TRAF3IP1 as ready
Ciliopathies v0.432 TRAF3IP1 Zornitza Stark Gene: traf3ip1 has been classified as Green List (High Evidence).
Ciliopathies v0.432 TRAF3IP1 Zornitza Stark Phenotypes for gene: TRAF3IP1 were changed from to Senior-Loken syndrome 9, MIM# 616629; MONDO:0014712
Ciliopathies v0.431 TRAF3IP1 Zornitza Stark Publications for gene: TRAF3IP1 were set to
Ciliopathies v0.430 TRAF3IP1 Zornitza Stark Mode of inheritance for gene: TRAF3IP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.429 TRAF3IP1 Zornitza Stark reviewed gene: TRAF3IP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26487268, 18364699, 21945076; Phenotypes: Senior-Loken syndrome 9, MIM# 616629, MONDO:0014712; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.429 TMEM67 Zornitza Stark Marked gene: TMEM67 as ready
Ciliopathies v0.429 TMEM67 Zornitza Stark Gene: tmem67 has been classified as Green List (High Evidence).
Ciliopathies v0.429 TMEM67 Zornitza Stark Phenotypes for gene: TMEM67 were changed from to Joubert syndrome 6, MIM# 610688; Meckel syndrome 3, MIM# 607361; Nephronophthisis 11, MIM# 613550; COACH syndrome 1, MIM# 216360
Ciliopathies v0.428 TMEM67 Zornitza Stark Publications for gene: TMEM67 were set to
Ciliopathies v0.427 TMEM67 Zornitza Stark Mode of inheritance for gene: TMEM67 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.426 TMEM67 Zornitza Stark changed review comment from: Bi-allelic variants in this gene are associated with a range of ciliopathies, including JBTS and Meckel syndrome. Multiple families with each.; to: Bi-allelic variants in this gene are associated with a range of ciliopathies, including JBTS, Meckel syndrome and nephronophthisis. Multiple families with each.
Ciliopathies v0.426 TMEM67 Zornitza Stark edited their review of gene: TMEM67: Changed phenotypes: Joubert syndrome 6, MIM# 610688, Meckel syndrome 3, MIM# 607361, Nephronophthisis 11, MIM# 613550, COACH syndrome 1, MIM# 216360
Ciliopathies v0.426 TCTEX1D2 Zornitza Stark Marked gene: TCTEX1D2 as ready
Ciliopathies v0.426 TCTEX1D2 Zornitza Stark Gene: tctex1d2 has been classified as Green List (High Evidence).
Ciliopathies v0.426 TCTEX1D2 Zornitza Stark Phenotypes for gene: TCTEX1D2 were changed from to Short-rib thoracic dysplasia 17 with or without polydactyly, MIM# 617405
Ciliopathies v0.425 TCTEX1D2 Zornitza Stark Publications for gene: TCTEX1D2 were set to
Ciliopathies v0.424 TCTEX1D2 Zornitza Stark Mode of inheritance for gene: TCTEX1D2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.423 TCTEX1D2 Zornitza Stark reviewed gene: TCTEX1D2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26044572, 25830415; Phenotypes: Short-rib thoracic dysplasia 17 with or without polydactyly, MIM# 617405; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.423 TCTN3 Zornitza Stark Marked gene: TCTN3 as ready
Ciliopathies v0.423 TCTN3 Zornitza Stark Gene: tctn3 has been classified as Green List (High Evidence).
Ciliopathies v0.423 TCTN3 Zornitza Stark Phenotypes for gene: TCTN3 were changed from to Joubert syndrome 18, MIM# 614815; MONDO:0013896; Orofaciodigital syndrome IV, MIM# 258860; Mohr-Majewski syndrome; Meckel-Gruber syndrome
Ciliopathies v0.422 TCTN3 Zornitza Stark Publications for gene: TCTN3 were set to
Ciliopathies v0.421 TCTN3 Zornitza Stark Mode of inheritance for gene: TCTN3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.420 TCTN3 Zornitza Stark edited their review of gene: TCTN3: Changed publications: 22883145, 32139166, 25118024, 34096792; Changed phenotypes: Joubert syndrome 18, MIM# 614815, MONDO:0013896, Orofaciodigital syndrome IV, MIM# 258860, Mohr-Majewski syndrome, Meckel-Gruber syndrome
Ciliopathies v0.420 SDCCAG8 Zornitza Stark Marked gene: SDCCAG8 as ready
Ciliopathies v0.420 SDCCAG8 Zornitza Stark Gene: sdccag8 has been classified as Green List (High Evidence).
Ciliopathies v0.420 SDCCAG8 Zornitza Stark Phenotypes for gene: SDCCAG8 were changed from to Bardet-Biedl syndrome 16, MIM# 615993; MONDO:0014444; Senior-Loken syndrome 7, MIM# 613615; MONDO:0013326; Nephronophthisis
Ciliopathies v0.419 SDCCAG8 Zornitza Stark Publications for gene: SDCCAG8 were set to
Ciliopathies v0.418 SDCCAG8 Zornitza Stark Mode of inheritance for gene: SDCCAG8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.417 SDCCAG8 Zornitza Stark changed review comment from: Well established gene-disease association. Polydactyly is typically ABSENT.; to: Well established gene-disease association with BBS. Polydactyly is typically ABSENT. Also reported with LCA and apparently isolated nephronophtisis.
Ciliopathies v0.417 SDCCAG8 Zornitza Stark edited their review of gene: SDCCAG8: Changed publications: 20835237, 22626039, 22626039, 32432520, 31534065, 26968886
Ciliopathies v0.417 SDCCAG8 Zornitza Stark edited their review of gene: SDCCAG8: Changed publications: 20835237, 22626039, 22626039, 32432520, 31534065; Changed phenotypes: Bardet-Biedl syndrome 16, MIM# 615993, MONDO:0014444, Senior-Loken syndrome 7, MIM# 613615, MONDO:0013326, Nephronophthisis
Ciliopathies v0.417 SDCCAG8 Zornitza Stark edited their review of gene: SDCCAG8: Changed phenotypes: Bardet-Biedl syndrome 16, MIM# 615993, MONDO:0014444
Ciliopathies v0.417 SBDS Zornitza Stark Marked gene: SBDS as ready
Ciliopathies v0.417 SBDS Zornitza Stark Gene: sbds has been classified as Amber List (Moderate Evidence).
Ciliopathies v0.417 SBDS Zornitza Stark Phenotypes for gene: SBDS were changed from to Shwachman-Diamond syndrome, MIM# 260400
Ciliopathies v0.416 SBDS Zornitza Stark Publications for gene: SBDS were set to
Ciliopathies v0.415 SBDS Zornitza Stark Mode of inheritance for gene: SBDS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.414 SBDS Zornitza Stark Classified gene: SBDS as Amber List (moderate evidence)
Ciliopathies v0.414 SBDS Zornitza Stark Gene: sbds has been classified as Amber List (Moderate Evidence).
Ciliopathies v0.413 SBDS Zornitza Stark reviewed gene: SBDS: Rating: AMBER; Mode of pathogenicity: None; Publications: 22554078; Phenotypes: Shwachman-Diamond syndrome, MIM# 260400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.413 RPGRIP1L Zornitza Stark Marked gene: RPGRIP1L as ready
Ciliopathies v0.413 RPGRIP1L Zornitza Stark Gene: rpgrip1l has been classified as Green List (High Evidence).
Ciliopathies v0.413 RPGRIP1L Zornitza Stark Phenotypes for gene: RPGRIP1L were changed from to Joubert syndrome 7, MIM# 611560; Meckel syndrome 5, MIM# 611561; COACH syndrome 3, MIM# 619113; Nephronophthisis
Ciliopathies v0.412 RPGRIP1L Zornitza Stark Publications for gene: RPGRIP1L were set to
Ciliopathies v0.411 RPGRIP1L Zornitza Stark Mode of inheritance for gene: RPGRIP1L was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.410 RPGRIP1L Zornitza Stark edited their review of gene: RPGRIP1L: Changed publications: 17558409, 17558407, 17960139, 26071364, 19574260, 29991045; Changed phenotypes: Joubert syndrome 7, MIM# 611560, Meckel syndrome 5, MIM# 611561, COACH syndrome 3, MIM# 619113, Nephronophthisis
Ciliopathies v0.410 PKHD1 Zornitza Stark Marked gene: PKHD1 as ready
Ciliopathies v0.410 PKHD1 Zornitza Stark Gene: pkhd1 has been classified as Green List (High Evidence).
Ciliopathies v0.410 PKHD1 Zornitza Stark Phenotypes for gene: PKHD1 were changed from to Polycystic kidney disease 4, with or without hepatic disease, MIM# 263200
Ciliopathies v0.409 PKHD1 Zornitza Stark Mode of inheritance for gene: PKHD1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.408 PKHD1 Zornitza Stark reviewed gene: PKHD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Polycystic kidney disease 4, with or without hepatic disease, MIM# 263200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.408 Zornitza Stark removed gene:PKD2 from the panel
Ciliopathies v0.408 Zornitza Stark removed gene:PKD1 from the panel
Ciliopathies v0.407 PKD1 Zornitza Stark reviewed gene: PKD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Polycystic kidney disease 1, MIM# 173900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ciliopathies v0.407 NPHP4 Zornitza Stark Marked gene: NPHP4 as ready
Ciliopathies v0.407 NPHP4 Zornitza Stark Gene: nphp4 has been classified as Green List (High Evidence).
Ciliopathies v0.407 NPHP4 Zornitza Stark Phenotypes for gene: NPHP4 were changed from to Nephronophthisis 4, MIM# 606966; Senior-Loken syndrome 4, MIM# 606996
Ciliopathies v0.406 NPHP4 Zornitza Stark Publications for gene: NPHP4 were set to
Ciliopathies v0.405 NPHP4 Zornitza Stark Mode of inheritance for gene: NPHP4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.404 NPHP4 Zornitza Stark reviewed gene: NPHP4: Rating: GREEN; Mode of pathogenicity: None; Publications: 12244321, 12205563, 34013113; Phenotypes: Nephronophthisis 4, MIM# 606966, Senior-Loken syndrome 4, MIM# 606996; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.404 NPHP1 Zornitza Stark Marked gene: NPHP1 as ready
Ciliopathies v0.404 NPHP1 Zornitza Stark Gene: nphp1 has been classified as Green List (High Evidence).
Ciliopathies v0.404 NPHP1 Zornitza Stark Phenotypes for gene: NPHP1 were changed from to Joubert syndrome 4, MIM# 609583; Nephronophthisis 1, juvenile, MIM# 256100; Senior-Loken syndrome-1, MIM# 266900
Ciliopathies v0.403 NPHP1 Zornitza Stark Publications for gene: NPHP1 were set to
Ciliopathies v0.402 NPHP1 Zornitza Stark Mode of inheritance for gene: NPHP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.401 NPHP1 Zornitza Stark changed review comment from: Bi-allelic variants in NPHP1 are associated with a range of ciliopathies, but >3 unrelated families reported with JBTS.; to: Bi-allelic variants in NPHP1 are associated with a range of ciliopathies, but >3 unrelated families reported with JBTS. Deletions common.
Ciliopathies v0.401 NPHP1 Zornitza Stark edited their review of gene: NPHP1: Changed publications: 15138899, 32139166, 28347285, 8852662, 9856524; Changed phenotypes: Joubert syndrome 4, MIM# 609583, Nephronophthisis 1, juvenile, MIM# 256100, Senior-Loken syndrome-1, MIM# 266900
Ciliopathies v0.401 NEK8 Zornitza Stark Marked gene: NEK8 as ready
Ciliopathies v0.401 NEK8 Zornitza Stark Gene: nek8 has been classified as Green List (High Evidence).
Ciliopathies v0.401 NEK8 Zornitza Stark Phenotypes for gene: NEK8 were changed from to Renal-hepatic-pancreatic dysplasia 2, MIM# 615415; MONDO:0014174
Ciliopathies v0.400 NEK8 Zornitza Stark Publications for gene: NEK8 were set to
Ciliopathies v0.399 NEK8 Zornitza Stark Mode of inheritance for gene: NEK8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.398 NEK8 Zornitza Stark reviewed gene: NEK8: Rating: GREEN; Mode of pathogenicity: None; Publications: 33131162, 23418306, 26862157, 26697755, 26967905, 23274954, 31633649; Phenotypes: Renal-hepatic-pancreatic dysplasia 2, MIM# 615415, MONDO:0014174; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.398 MKKS Zornitza Stark Marked gene: MKKS as ready
Ciliopathies v0.398 MKKS Zornitza Stark Gene: mkks has been classified as Green List (High Evidence).
Ciliopathies v0.398 MKKS Zornitza Stark Phenotypes for gene: MKKS were changed from to Bardet-Biedl syndrome 6 (MIM#605231); McKusick-Kaufman syndrome, MIM# 236700; Retinitis pigmentosa
Ciliopathies v0.397 MKKS Zornitza Stark Publications for gene: MKKS were set to
Ciliopathies v0.396 MKKS Zornitza Stark Mode of inheritance for gene: MKKS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.395 MKKS Zornitza Stark reviewed gene: MKKS: Rating: GREEN; Mode of pathogenicity: None; Publications: 10802661, 26900326; Phenotypes: McKusick-Kaufman syndrome, MIM# 236700, Retinitis pigmentosa.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.395 IQCB1 Zornitza Stark Phenotypes for gene: IQCB1 were changed from Senior-Loken syndrome 5, MIM# 609254 to Senior-Loken syndrome 5, MIM# 609254; MONDO:0012225
Ciliopathies v0.394 IQCB1 Zornitza Stark Marked gene: IQCB1 as ready
Ciliopathies v0.394 IQCB1 Zornitza Stark Gene: iqcb1 has been classified as Green List (High Evidence).
Ciliopathies v0.394 IQCB1 Zornitza Stark Phenotypes for gene: IQCB1 were changed from to Senior-Loken syndrome 5, MIM# 609254
Ciliopathies v0.393 IQCB1 Zornitza Stark Publications for gene: IQCB1 were set to
Ciliopathies v0.392 IQCB1 Zornitza Stark Mode of inheritance for gene: IQCB1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.391 IQCB1 Zornitza Stark reviewed gene: IQCB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15723066, 21220633, 20881296, 21901789, 33512896, 33535056, 29219953; Phenotypes: Senior-Loken syndrome 5, MIM# 609254; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.391 HNF1B Zornitza Stark Marked gene: HNF1B as ready
Ciliopathies v0.391 HNF1B Zornitza Stark Gene: hnf1b has been classified as Green List (High Evidence).
Ciliopathies v0.391 HNF1B Zornitza Stark Phenotypes for gene: HNF1B were changed from to Renal cysts and diabetes syndrome, MIM# 137920
Ciliopathies v0.390 HNF1B Zornitza Stark Mode of inheritance for gene: HNF1B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ciliopathies v0.389 HNF1B Zornitza Stark Tag SV/CNV tag was added to gene: HNF1B.
Ciliopathies v0.389 HNF1B Zornitza Stark reviewed gene: HNF1B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Renal cysts and diabetes syndrome, MIM# 137920; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ciliopathies v0.389 IFT80 Zornitza Stark Phenotypes for gene: IFT80 were changed from Short-rib thoracic dysplasia 2 with or without polydactyly, MIM# 611263 to Short-rib thoracic dysplasia 2 with or without polydactyly, MIM# 611263; MONDO:0012644
Ciliopathies v0.388 IFT80 Zornitza Stark Marked gene: IFT80 as ready
Ciliopathies v0.388 IFT80 Zornitza Stark Gene: ift80 has been classified as Green List (High Evidence).
Ciliopathies v0.388 IFT80 Zornitza Stark Phenotypes for gene: IFT80 were changed from to Short-rib thoracic dysplasia 2 with or without polydactyly, MIM# 611263
Ciliopathies v0.387 IFT80 Zornitza Stark Publications for gene: IFT80 were set to
Ciliopathies v0.386 IFT80 Zornitza Stark Mode of inheritance for gene: IFT80 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.385 IFT80 Zornitza Stark reviewed gene: IFT80: Rating: GREEN; Mode of pathogenicity: None; Publications: 17468754, 19648123, 30767363; Phenotypes: Short-rib thoracic dysplasia 2 with or without polydactyly, MIM# 611263; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.385 LZTFL1 Zornitza Stark Marked gene: LZTFL1 as ready
Ciliopathies v0.385 LZTFL1 Zornitza Stark Gene: lztfl1 has been classified as Green List (High Evidence).
Ciliopathies v0.385 LZTFL1 Zornitza Stark Phenotypes for gene: LZTFL1 were changed from to Bardet-Biedl syndrome 17 (MIM#615994)
Ciliopathies v0.384 LZTFL1 Zornitza Stark Publications for gene: LZTFL1 were set to
Ciliopathies v0.383 LZTFL1 Zornitza Stark Mode of inheritance for gene: LZTFL1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.382 LBR Zornitza Stark Marked gene: LBR as ready
Ciliopathies v0.382 LBR Zornitza Stark Gene: lbr has been classified as Green List (High Evidence).
Ciliopathies v0.382 LBR Zornitza Stark Phenotypes for gene: LBR were changed from to Greenberg skeletal dysplasia, MIM#215140
Ciliopathies v0.381 LBR Zornitza Stark Publications for gene: LBR were set to
Ciliopathies v0.380 LBR Zornitza Stark Mode of inheritance for gene: LBR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.379 TTC26 Zornitza Stark changed review comment from: Three unrelated families and functional data including zebrafish model.
Sources: Literature; to: 9 families and functional data including zebrafish model.
Sources: Literature
Ciliopathies v0.379 TTC26 Zornitza Stark Marked gene: TTC26 as ready
Ciliopathies v0.379 TTC26 Zornitza Stark Gene: ttc26 has been classified as Green List (High Evidence).
Ciliopathies v0.379 TTC26 Zornitza Stark Classified gene: TTC26 as Green List (high evidence)
Ciliopathies v0.379 TTC26 Zornitza Stark Gene: ttc26 has been classified as Green List (High Evidence).
Ciliopathies v0.378 TTC26 Zornitza Stark gene: TTC26 was added
gene: TTC26 was added to Ciliopathies. Sources: Literature
Mode of inheritance for gene: TTC26 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TTC26 were set to 34177428; 32617964; 31595528; 24596149; 22718903
Phenotypes for gene: TTC26 were set to Ciliopathy Syndrome with Biliary, Renal, Neurological, and Skeletal Manifestations
Review for gene: TTC26 was set to GREEN
Added comment: Three unrelated families and functional data including zebrafish model.
Sources: Literature
Ciliopathies v0.377 KIF7 Zornitza Stark Marked gene: KIF7 as ready
Ciliopathies v0.377 KIF7 Zornitza Stark Gene: kif7 has been classified as Green List (High Evidence).
Ciliopathies v0.377 KIF7 Zornitza Stark Phenotypes for gene: KIF7 were changed from to Joubert syndrome 12, MIM# 200990; Acrocallosal syndrome, MIM# 200990; MONDO:0008708; Hydrolethalus syndrome 2, MIM# 614120
Ciliopathies v0.376 KIF7 Zornitza Stark Publications for gene: KIF7 were set to
Ciliopathies v0.375 KIF7 Zornitza Stark Mode of inheritance for gene: KIF7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.374 KIAA0753 Zornitza Stark Marked gene: KIAA0753 as ready
Ciliopathies v0.374 KIAA0753 Zornitza Stark Gene: kiaa0753 has been classified as Green List (High Evidence).
Ciliopathies v0.374 KIAA0753 Zornitza Stark Phenotypes for gene: KIAA0753 were changed from to Orofaciodigital syndrome XV 617127; Joubert syndrome
Ciliopathies v0.373 KIAA0753 Zornitza Stark Publications for gene: KIAA0753 were set to
Ciliopathies v0.372 KIAA0753 Zornitza Stark Mode of inheritance for gene: KIAA0753 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.371 KIAA0753 Zornitza Stark Deleted their comment
Ciliopathies v0.371 KIAA0586 Zornitza Stark Marked gene: KIAA0586 as ready
Ciliopathies v0.371 KIAA0586 Zornitza Stark Gene: kiaa0586 has been classified as Green List (High Evidence).
Ciliopathies v0.371 KIAA0586 Zornitza Stark Phenotypes for gene: KIAA0586 were changed from to Joubert syndrome 23 616490; Short-rib thoracic dysplasia 14 with polydactyly 616546
Ciliopathies v0.370 KIAA0586 Zornitza Stark Publications for gene: KIAA0586 were set to
Ciliopathies v0.369 KIAA0586 Zornitza Stark edited their review of gene: KIAA0586: Changed rating: GREEN; Changed publications: 26166481; Changed phenotypes: Short-rib thoracic dysplasia 14 with polydactyly, MIM# 616546; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.369 KIAA0586 Zornitza Stark Mode of inheritance for gene: KIAA0586 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.368 KIAA0586 Zornitza Stark Tag new gene name tag was added to gene: KIAA0586.
Ciliopathies v0.368 IFT52 Zornitza Stark Marked gene: IFT52 as ready
Ciliopathies v0.368 IFT52 Zornitza Stark Gene: ift52 has been classified as Green List (High Evidence).
Ciliopathies v0.368 IFT52 Zornitza Stark Phenotypes for gene: IFT52 were changed from to Short-rib thoracic dysplasia 16 with or without polydactyly, MIM# 617102
Ciliopathies v0.367 IFT52 Zornitza Stark Publications for gene: IFT52 were set to
Ciliopathies v0.366 IFT52 Zornitza Stark Mode of inheritance for gene: IFT52 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.365 IFT52 Zornitza Stark reviewed gene: IFT52: Rating: GREEN; Mode of pathogenicity: None; Publications: 26880018, 27466190, 30242358, 31042281; Phenotypes: Short-rib thoracic dysplasia 16 with or without polydactyly, MIM# 617102; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.365 IFT43 Zornitza Stark edited their review of gene: IFT43: Changed phenotypes: Short-rib thoracic dysplasia 18 with polydactyly, MIM# 617866, Cranioectodermal dysplasia 3, MIM# 614099, Retinitis pigmentosa 81, MIM# 617871
Ciliopathies v0.365 IFT43 Zornitza Stark edited their review of gene: IFT43: Changed publications: 28400947, 28973684, 21378380, 29896747
Ciliopathies v0.365 IFT43 Zornitza Stark Deleted their comment
Ciliopathies v0.365 IFT43 Zornitza Stark edited their review of gene: IFT43: Added comment: Two families reported with short-rib thoracic dysplasia and two with cranioectodermal dysplasia.; Changed publications: 28400947, 21378380, 29896747; Changed phenotypes: Short-rib thoracic dysplasia 18 with polydactyly, MIM# 617866, Cranioectodermal dysplasia 3, MIM# 614099
Ciliopathies v0.365 IFT43 Zornitza Stark changed review comment from: One family reported with cranioectodermal dysplasia, one with RP, and two with skeletal ciliopathy.; to: Two families reported with cranioectodermal dysplasia, one with RP, and two with skeletal ciliopathy.
Ciliopathies v0.365 IFT43 Zornitza Stark edited their review of gene: IFT43: Changed publications: 28400947, 28973684, 21378380, 29896747
Ciliopathies v0.365 IFT43 Zornitza Stark Marked gene: IFT43 as ready
Ciliopathies v0.365 IFT43 Zornitza Stark Gene: ift43 has been classified as Green List (High Evidence).
Ciliopathies v0.365 IFT43 Zornitza Stark Phenotypes for gene: IFT43 were changed from to Short-rib thoracic dysplasia 18 with polydactyly, MIM# 617866; Retinitis pigmentosa 81 , MIM#617871; Cranioectodermal dysplasia 3, MIM# 614099
Ciliopathies v0.364 IFT43 Zornitza Stark Publications for gene: IFT43 were set to
Ciliopathies v0.363 IFT43 Zornitza Stark Mode of inheritance for gene: IFT43 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.362 IFT43 Zornitza Stark reviewed gene: IFT43: Rating: GREEN; Mode of pathogenicity: None; Publications: 28400947, 28973684, 21378380; Phenotypes: Short-rib thoracic dysplasia 18 with polydactyly, MIM# 617866, Retinitis pigmentosa 81 , MIM#617871, Cranioectodermal dysplasia 3, MIM# 614099; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.362 IFT140 Zornitza Stark Marked gene: IFT140 as ready
Ciliopathies v0.362 IFT140 Zornitza Stark Gene: ift140 has been classified as Green List (High Evidence).
Ciliopathies v0.362 IFT140 Zornitza Stark Phenotypes for gene: IFT140 were changed from to Short-rib thoracic dysplasia 9 with or without polydactyly, MIM# 266920; Retinitis pigmentosa 80, MIM# 617781
Ciliopathies v0.361 IFT140 Zornitza Stark Publications for gene: IFT140 were set to
Ciliopathies v0.360 IFT140 Zornitza Stark Mode of inheritance for gene: IFT140 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.359 IFT140 Zornitza Stark reviewed gene: IFT140: Rating: GREEN; Mode of pathogenicity: None; Publications: 22503633, 23418020, 28288023, 28724397, 26216056, 26968735; Phenotypes: Short-rib thoracic dysplasia 9 with or without polydactyly, MIM# 266920, Retinitis pigmentosa 80, MIM# 617781; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.359 IFT172 Zornitza Stark Marked gene: IFT172 as ready
Ciliopathies v0.359 IFT172 Zornitza Stark Gene: ift172 has been classified as Green List (High Evidence).
Ciliopathies v0.359 IFT172 Zornitza Stark Phenotypes for gene: IFT172 were changed from to Bardet-Biedl syndrome; Retinitis pigmentosa 71, MIM# 616394; Short-rib thoracic dysplasia 10 with or without polydactyly, MIM# 615630
Ciliopathies v0.358 IFT172 Zornitza Stark Publications for gene: IFT172 were set to
Ciliopathies v0.357 IFT172 Zornitza Stark Mode of inheritance for gene: IFT172 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.356 IFT172 Zornitza Stark changed review comment from: Three families reported with a BBS phenotype, although this association is not listed in OMIM or MONDO. Gene is associated with other ciliopathies as well.; to: Three families reported with a BBS phenotype, although this association is not listed in OMIM or MONDO.
More than 10 families reported with skeletal ciliopathy and 3 with RP. Supportive zebrafish models.
Ciliopathies v0.356 IFT172 Zornitza Stark edited their review of gene: IFT172: Changed publications: 30761183, 26763875, 25168386, 24140113, 25168386; Changed phenotypes: Bardet-Biedl syndrome, Retinitis pigmentosa 71, MIM# 616394, Short-rib thoracic dysplasia 10 with or without polydactyly, MIM# 615630
Ciliopathies v0.356 EVC Zornitza Stark Marked gene: EVC as ready
Ciliopathies v0.356 EVC Zornitza Stark Gene: evc has been classified as Green List (High Evidence).
Ciliopathies v0.356 EVC Zornitza Stark Phenotypes for gene: EVC were changed from to Ellis-van Creveld syndrome, MIM# 225500
Ciliopathies v0.355 EVC Zornitza Stark Publications for gene: EVC were set to
Ciliopathies v0.354 EVC Zornitza Stark Mode of inheritance for gene: EVC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.353 DYNC2LI1 Zornitza Stark Marked gene: DYNC2LI1 as ready
Ciliopathies v0.353 DYNC2LI1 Zornitza Stark Gene: dync2li1 has been classified as Green List (High Evidence).
Ciliopathies v0.353 DYNC2LI1 Zornitza Stark Phenotypes for gene: DYNC2LI1 were changed from to Short-rib thoracic dysplasia 15 with polydactyly (MIM#617088)
Ciliopathies v0.352 DYNC2LI1 Zornitza Stark Publications for gene: DYNC2LI1 were set to
Ciliopathies v0.351 DYNC2LI1 Zornitza Stark Mode of inheritance for gene: DYNC2LI1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.350 DYNC2H1 Zornitza Stark Marked gene: DYNC2H1 as ready
Ciliopathies v0.350 DYNC2H1 Zornitza Stark Gene: dync2h1 has been classified as Green List (High Evidence).
Ciliopathies v0.350 DYNC2H1 Zornitza Stark Phenotypes for gene: DYNC2H1 were changed from to Short-rib thoracic dysplasia 3 with or without polydactyly, MIM# 613091; MONDO:0013127
Ciliopathies v0.349 DYNC2H1 Zornitza Stark Publications for gene: DYNC2H1 were set to
Ciliopathies v0.348 DYNC2H1 Zornitza Stark Mode of inheritance for gene: DYNC2H1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.347 DYNC2H1 Zornitza Stark edited their review of gene: DYNC2H1: Changed phenotypes: Short-rib thoracic dysplasia 3 with or without polydactyly, MIM# 613091, MONDO:0013127
Ciliopathies v0.347 DYNC2H1 Zornitza Stark reviewed gene: DYNC2H1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19442771, 19361615, 22499340, 23456818, 27925158; Phenotypes: Short-rib thoracic dysplasia 3 with or without polydactyly, MIM# 613091; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.347 DDX59 Zornitza Stark Marked gene: DDX59 as ready
Ciliopathies v0.347 DDX59 Zornitza Stark Gene: ddx59 has been classified as Green List (High Evidence).
Ciliopathies v0.347 DDX59 Zornitza Stark Phenotypes for gene: DDX59 were changed from to Orofaciodigital syndrome V (MIM#174300)
Ciliopathies v0.346 DDX59 Zornitza Stark Publications for gene: DDX59 were set to
Ciliopathies v0.345 DDX59 Zornitza Stark Mode of inheritance for gene: DDX59 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.344 CEP83 Zornitza Stark Marked gene: CEP83 as ready
Ciliopathies v0.344 CEP83 Zornitza Stark Gene: cep83 has been classified as Green List (High Evidence).
Ciliopathies v0.344 CEP83 Zornitza Stark Phenotypes for gene: CEP83 were changed from to Nephronophthisis 18, MIM# 615862; MONDO:0014374; Retinal dystrophy; ID
Ciliopathies v0.343 CEP83 Zornitza Stark Publications for gene: CEP83 were set to
Ciliopathies v0.342 CEP83 Zornitza Stark Mode of inheritance for gene: CEP83 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.341 CEP83 Zornitza Stark edited their review of gene: CEP83: Changed phenotypes: Nephronophthisis 18, MIM# 615862, MONDO:0014374, Retinal dystrophy, ID
Ciliopathies v0.341 CEP83 Zornitza Stark reviewed gene: CEP83: Rating: GREEN; Mode of pathogenicity: None; Publications: 24882706, 33938610; Phenotypes: Nephronophthisis 18, MIM# 615862, Retinal dystrophy, ID; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.341 CEP290 Zornitza Stark Marked gene: CEP290 as ready
Ciliopathies v0.341 CEP290 Zornitza Stark Gene: cep290 has been classified as Green List (High Evidence).
Ciliopathies v0.341 CEP290 Zornitza Stark Phenotypes for gene: CEP290 were changed from to Bardet-Biedl syndrome 14, MIM# 615991; Joubert syndrome 5 610188; Leber congenital amaurosis 10, MIM# 611755; Meckel syndrome 4, MIM# 611134; Senior-Loken syndrome 6, MIM# 610189
Ciliopathies v0.340 CEP290 Zornitza Stark Publications for gene: CEP290 were set to
Ciliopathies v0.339 CEP290 Zornitza Stark Mode of inheritance for gene: CEP290 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.338 CEP290 Zornitza Stark changed review comment from: Variants in this gene cause a range of ciliopathies. The association with BBS is rare.; to: Variants in this gene cause a range of ciliopathies.
Ciliopathies v0.338 CEP290 Zornitza Stark edited their review of gene: CEP290: Changed publications: 18327255, 20690115, 16682973, 16682970, 17564967, 16909394, 17564974; Changed phenotypes: Bardet-Biedl syndrome 14, MIM# 615991, Joubert syndrome 5 610188, Leber congenital amaurosis 10, MIM# 611755, Meckel syndrome 4, MIM# 611134, Senior-Loken syndrome 6, MIM# 610189
Ciliopathies v0.338 CEP164 Zornitza Stark Marked gene: CEP164 as ready
Ciliopathies v0.338 CEP164 Zornitza Stark Gene: cep164 has been classified as Green List (High Evidence).
Ciliopathies v0.338 CEP164 Zornitza Stark Phenotypes for gene: CEP164 were changed from to Bardet-Biedl syndrome; Nephronophthisis 15, MIM# 614845; Oro-facio-digital syndrome
Ciliopathies v0.337 CEP164 Zornitza Stark Publications for gene: CEP164 were set to
Ciliopathies v0.336 CEP164 Zornitza Stark Mode of inheritance for gene: CEP164 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.335 CEP164 Zornitza Stark changed review comment from: Although this is labelled as a nephronophthisis gene in OMIM, some of the reported individuals have had features such as retinal involvement, ID and polydactyly to suggest a more BBS-like phenotype. Rated Amber given the overall low number of affected individuals, emerging phenotype.
Sources: Expert list; to: More than 10 unrelated families reported. Although this is labelled as a nephronophthisis gene in OMIM, some of the reported individuals have had features such as retinal involvement, ID and polydactyly to suggest a more BBS-like phenotype. Also note one individual reported with OFD-like phenotype.
Sources: Expert list
Ciliopathies v0.335 CEP164 Zornitza Stark edited their review of gene: CEP164: Changed rating: GREEN; Changed publications: 34132027, 34013113, 32055034, 27708425, 22863007; Changed phenotypes: Bardet-Biedl syndrome, Nephronophthisis 15, MIM# 614845, Oro-facio-digital syndrome
Ciliopathies v0.335 CEP120 Zornitza Stark Marked gene: CEP120 as ready
Ciliopathies v0.335 CEP120 Zornitza Stark Gene: cep120 has been classified as Green List (High Evidence).
Ciliopathies v0.335 CEP120 Zornitza Stark Phenotypes for gene: CEP120 were changed from Joubert syndrome 31, MIM# 617761; Short-rib thoracic dysplasia 13 with or without polydactyly, MIM# 616300 to Joubert syndrome 31, MIM# 617761; Short-rib thoracic dysplasia 13 with or without polydactyly, MIM# 616300
Ciliopathies v0.335 CEP120 Zornitza Stark Phenotypes for gene: CEP120 were changed from to Joubert syndrome 31, MIM# 617761; Short-rib thoracic dysplasia 13 with or without polydactyly, MIM# 616300
Ciliopathies v0.334 CEP120 Zornitza Stark Publications for gene: CEP120 were set to
Ciliopathies v0.333 CEP120 Zornitza Stark changed review comment from: More than 5 unrelated families with JBTS reported. Note variants in this gene also cause SRTD. Functional data.
Sources: Expert list; to: More than 5 unrelated families with JBTS reported, and at least three families with SRTD. Functional data.
Sources: Expert list
Ciliopathies v0.333 CEP120 Zornitza Stark edited their review of gene: CEP120: Changed publications: 27208211, 33486889, 29847808, 25361962, 27208211; Changed phenotypes: Joubert syndrome 31, MIM# 617761, Short-rib thoracic dysplasia 13 with or without polydactyly, MIM# 616300
Ciliopathies v0.333 CEP120 Zornitza Stark Mode of inheritance for gene: CEP120 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.332 CEP104 Zornitza Stark Phenotypes for gene: CEP104 were changed from Joubert syndrome 25, MIM# 616781 to Joubert syndrome 25, MIM# 616781; MONDO:0014770
Ciliopathies v0.331 CEP104 Zornitza Stark Marked gene: CEP104 as ready
Ciliopathies v0.331 CEP104 Zornitza Stark Gene: cep104 has been classified as Green List (High Evidence).
Ciliopathies v0.331 CEP104 Zornitza Stark Phenotypes for gene: CEP104 were changed from to Joubert syndrome 25, MIM# 616781
Ciliopathies v0.330 CEP104 Zornitza Stark Publications for gene: CEP104 were set to
Ciliopathies v0.329 CEP104 Zornitza Stark Mode of inheritance for gene: CEP104 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.328 C5orf42 Zornitza Stark changed review comment from: Well established gene-disease association.

New gene name is CPLANE1.; to: Well established gene-disease associations. More than 10 unrelated families reported with each association.

New gene name is CPLANE1.
Ciliopathies v0.328 C5orf42 Zornitza Stark edited their review of gene: C5orf42: Changed publications: 22425360, 24178751; Changed phenotypes: Joubert syndrome 17, MIM# 614615, MONDO:0013824, Orofaciodigital syndrome VI, MIM# 277170
Ciliopathies v0.328 C5orf42 Zornitza Stark changed review comment from: Well established gene-disease association.; to: Well established gene-disease association.

New gene name is CPLANE1.
Ciliopathies v0.328 C5orf42 Zornitza Stark Tag new gene name tag was added to gene: C5orf42.
Ciliopathies v0.328 C5orf42 Zornitza Stark Marked gene: C5orf42 as ready
Ciliopathies v0.328 C5orf42 Zornitza Stark Gene: c5orf42 has been classified as Green List (High Evidence).
Ciliopathies v0.328 C5orf42 Zornitza Stark Phenotypes for gene: C5orf42 were changed from to Joubert syndrome 17, MIM# 614615
Ciliopathies v0.327 C5orf42 Zornitza Stark Publications for gene: C5orf42 were set to
Ciliopathies v0.326 C5orf42 Zornitza Stark Mode of inheritance for gene: C5orf42 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.325 C21orf2 Zornitza Stark changed review comment from: Axial spondylometaphyseal dysplasia (SMDAX) is characterized by postnatal growth failure, including rhizomelic short stature in early childhood that evolves into short trunk in late childhood, and thoracic hypoplasia that may cause mild to moderate respiratory problems in the neonatal period and later susceptibility to airway infection. Impaired visual acuity comes to medical attention in early life and vision rapidly deteriorates. Retinal changes are diagnosed as retinitis pigmentosa or pigmentary retinal degeneration on funduscopic examination and as cone-rod dystrophy on ERG. Radiologic hallmarks include short ribs with flared and cupped anterior ends, mild spondylar dysplasia, lacy iliac crests, and metaphyseal irregularities essentially confined to the proximal femora. At least 7 unrelated families reported.

7 families also reported with isolated retinal dystrophy.; to: Axial spondylometaphyseal dysplasia (SMDAX) is characterized by postnatal growth failure, including rhizomelic short stature in early childhood that evolves into short trunk in late childhood, and thoracic hypoplasia that may cause mild to moderate respiratory problems in the neonatal period and later susceptibility to airway infection. Impaired visual acuity comes to medical attention in early life and vision rapidly deteriorates. Retinal changes are diagnosed as retinitis pigmentosa or pigmentary retinal degeneration on funduscopic examination and as cone-rod dystrophy on ERG. Radiologic hallmarks include short ribs with flared and cupped anterior ends, mild spondylar dysplasia, lacy iliac crests, and metaphyseal irregularities essentially confined to the proximal femora. At least 7 unrelated families reported.

7 families also reported with isolated retinal dystrophy.

New HGNC approved name is CFAP410.
Ciliopathies v0.325 C21orf2 Zornitza Stark Tag new gene name tag was added to gene: C21orf2.
Ciliopathies v0.325 C21orf2 Zornitza Stark Marked gene: C21orf2 as ready
Ciliopathies v0.325 C21orf2 Zornitza Stark Gene: c21orf2 has been classified as Green List (High Evidence).
Ciliopathies v0.325 C21orf2 Zornitza Stark Phenotypes for gene: C21orf2 were changed from to Spondylometaphyseal dysplasia, axial, MIM# 602271; Retinal dystrophy with macular staphyloma, MIM# 617547
Ciliopathies v0.324 C21orf2 Zornitza Stark Publications for gene: C21orf2 were set to
Ciliopathies v0.323 C21orf2 Zornitza Stark Mode of inheritance for gene: C21orf2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.322 C21orf2 Zornitza Stark reviewed gene: C21orf2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26974433, 27548899, 28422394, 26294103, 23105016, 27548899; Phenotypes: Spondylometaphyseal dysplasia, axial, MIM# 602271, Retinal dystrophy with macular staphyloma, MIM# 617547; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.321 BBS9 Zornitza Stark Marked gene: BBS9 as ready
Ciliopathies v0.321 BBS9 Zornitza Stark Gene: bbs9 has been classified as Green List (High Evidence).
Ciliopathies v0.321 BBS9 Zornitza Stark Phenotypes for gene: BBS9 were changed from to Bardet-Biedl syndrome 9, MIM#615986; MONDO:0014437
Ciliopathies v0.320 BBS9 Zornitza Stark Publications for gene: BBS9 were set to
Ciliopathies v0.319 BBS9 Zornitza Stark Mode of inheritance for gene: BBS9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.318 BBS7 Zornitza Stark Marked gene: BBS7 as ready
Ciliopathies v0.318 BBS7 Zornitza Stark Gene: bbs7 has been classified as Green List (High Evidence).
Ciliopathies v0.318 BBS7 Zornitza Stark Phenotypes for gene: BBS7 were changed from to Bardet-Biedl syndrome 7, MIM# 615984; MONDO:0014435
Ciliopathies v0.317 BBS7 Zornitza Stark Publications for gene: BBS7 were set to
Ciliopathies v0.316 BBS7 Zornitza Stark Mode of inheritance for gene: BBS7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.315 BBS7 Zornitza Stark edited their review of gene: BBS7: Changed phenotypes: Bardet-Biedl syndrome 7, MIM# 615984, MONDO:0014435
Ciliopathies v0.315 BBS5 Zornitza Stark Marked gene: BBS5 as ready
Ciliopathies v0.315 BBS5 Zornitza Stark Gene: bbs5 has been classified as Green List (High Evidence).
Ciliopathies v0.315 BBS5 Zornitza Stark Phenotypes for gene: BBS5 were changed from to Bardet-Biedl syndrome 5, MIM#615983; MONDO:0014434
Ciliopathies v0.314 BBS5 Zornitza Stark Publications for gene: BBS5 were set to
Ciliopathies v0.313 BBS5 Zornitza Stark Mode of inheritance for gene: BBS5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.312 BBS5 Zornitza Stark edited their review of gene: BBS5: Changed phenotypes: Bardet-Biedl syndrome 5, MIM#615983, MONDO:0014434
Ciliopathies v0.312 BBS4 Zornitza Stark Marked gene: BBS4 as ready
Ciliopathies v0.312 BBS4 Zornitza Stark Gene: bbs4 has been classified as Green List (High Evidence).
Ciliopathies v0.312 BBS4 Zornitza Stark Phenotypes for gene: BBS4 were changed from to Bardet-Biedl syndrome 4, MIM#615982; MONDO:0014433
Ciliopathies v0.311 BBS4 Zornitza Stark Publications for gene: BBS4 were set to
Ciliopathies v0.310 BBS4 Zornitza Stark Mode of inheritance for gene: BBS4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.309 BBS4 Zornitza Stark edited their review of gene: BBS4: Changed phenotypes: Bardet-Biedl syndrome 4, MIM#615982, MONDO:0014433
Ciliopathies v0.309 BBS2 Zornitza Stark Marked gene: BBS2 as ready
Ciliopathies v0.309 BBS2 Zornitza Stark Gene: bbs2 has been classified as Green List (High Evidence).
Ciliopathies v0.309 BBS2 Zornitza Stark Phenotypes for gene: BBS2 were changed from to Bardet-Biedl syndrome 2, MIM# 615981; Retinitis pigmentosa 74, MIM# 616562
Ciliopathies v0.308 BBS2 Zornitza Stark Publications for gene: BBS2 were set to
Ciliopathies v0.307 BBS2 Zornitza Stark Mode of inheritance for gene: BBS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.306 BBS2 Zornitza Stark changed review comment from: Well established gene-disease association.; to: Well established gene-disease association. Limited number of families also reported with isolated RP.
Ciliopathies v0.306 BBS2 Zornitza Stark edited their review of gene: BBS2: Changed publications: 11567139, 16823392, 28143435, 31960602, 25541840; Changed phenotypes: Bardet-Biedl syndrome 2, MIM# 615981, Retinitis pigmentosa 74, MIM# 616562
Ciliopathies v0.306 BBS12 Zornitza Stark Marked gene: BBS12 as ready
Ciliopathies v0.306 BBS12 Zornitza Stark Gene: bbs12 has been classified as Green List (High Evidence).
Ciliopathies v0.306 BBS12 Zornitza Stark Phenotypes for gene: BBS12 were changed from to Bardet-Biedl syndrome 12, MIM# 615989
Ciliopathies v0.305 BBS12 Zornitza Stark Publications for gene: BBS12 were set to
Ciliopathies v0.304 BBS12 Zornitza Stark Mode of inheritance for gene: BBS12 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.303 ARL6 Zornitza Stark Marked gene: ARL6 as ready
Ciliopathies v0.303 ARL6 Zornitza Stark Gene: arl6 has been classified as Green List (High Evidence).
Ciliopathies v0.303 BBS10 Zornitza Stark Marked gene: BBS10 as ready
Ciliopathies v0.303 BBS10 Zornitza Stark Gene: bbs10 has been classified as Green List (High Evidence).
Ciliopathies v0.303 BBS10 Zornitza Stark Phenotypes for gene: BBS10 were changed from to Bardet-Biedl syndrome 10, MIM# 615987
Ciliopathies v0.302 BBS10 Zornitza Stark Publications for gene: BBS10 were set to
Ciliopathies v0.301 BBS10 Zornitza Stark Mode of inheritance for gene: BBS10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.300 BBS1 Zornitza Stark Marked gene: BBS1 as ready
Ciliopathies v0.300 BBS1 Zornitza Stark Gene: bbs1 has been classified as Green List (High Evidence).
Ciliopathies v0.300 BBS1 Zornitza Stark Phenotypes for gene: BBS1 were changed from to Bardet-Biedl syndrome 1, MIM# 209900
Ciliopathies v0.299 BBS1 Zornitza Stark Publications for gene: BBS1 were set to
Ciliopathies v0.298 BBS1 Zornitza Stark Mode of inheritance for gene: BBS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.297 B9D2 Zornitza Stark Marked gene: B9D2 as ready
Ciliopathies v0.297 B9D2 Zornitza Stark Gene: b9d2 has been classified as Green List (High Evidence).
Ciliopathies v0.297 B9D2 Zornitza Stark Phenotypes for gene: B9D2 were changed from to Joubert syndrome 34, MIM# 614175; Meckel syndrome 10, MIM# 614175
Ciliopathies v0.296 B9D2 Zornitza Stark Publications for gene: B9D2 were set to
Ciliopathies v0.295 B9D2 Zornitza Stark Mode of inheritance for gene: B9D2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.293 ARL6 Zornitza Stark Phenotypes for gene: ARL6 were changed from Bardet-Biedl syndrome 3, MIM# 600151; Retinitis pigmentosa 55, MIM# 613575 to Bardet-Biedl syndrome 3, MIM# 600151; Retinitis pigmentosa 55, MIM# 613575
Ciliopathies v0.293 ARL6 Zornitza Stark Phenotypes for gene: ARL6 were changed from to Bardet-Biedl syndrome 3, MIM# 600151; Retinitis pigmentosa 55, MIM# 613575
Ciliopathies v0.292 ARL6 Zornitza Stark Publications for gene: ARL6 were set to
Ciliopathies v0.291 ARL6 Zornitza Stark Mode of inheritance for gene: ARL6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.290 ARL6 Zornitza Stark changed review comment from: Multiple families reported and functional data.; to: Multiple families reported with BBS and functional data. Some families reported with isolated RP.
Ciliopathies v0.290 ARL6 Zornitza Stark edited their review of gene: ARL6: Changed publications: 15258860, 32361989, 31888296, 25402481, 31736247, 19858128; Changed phenotypes: Bardet-Biedl syndrome 3, MIM# 600151, Retinitis pigmentosa 55, MIM# 613575
Ciliopathies v0.289 NPHP3 Zornitza Stark Marked gene: NPHP3 as ready
Ciliopathies v0.289 NPHP3 Zornitza Stark Gene: nphp3 has been classified as Green List (High Evidence).
Ciliopathies v0.289 NPHP3 Zornitza Stark Phenotypes for gene: NPHP3 were changed from to Nephronophthisis 3, MIM# 604387; Renal-hepatic-pancreatic dysplasia 1, MIM# 208540; Meckel syndrome 7, MIM# 267010
Ciliopathies v0.288 NPHP3 Zornitza Stark Publications for gene: NPHP3 were set to
Ciliopathies v0.287 NPHP3 Zornitza Stark Mode of inheritance for gene: NPHP3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.286 NPHP3 Zornitza Stark reviewed gene: NPHP3: Rating: GREEN; Mode of pathogenicity: None; Publications: 19177160, 34013113, 33323469, 32341812, 28921755, 18371931; Phenotypes: Nephronophthisis 3, MIM# 604387, Renal-hepatic-pancreatic dysplasia 1, MIM# 208540, Meckel syndrome 7, MIM# 267010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.286 C2CD3 Zornitza Stark Marked gene: C2CD3 as ready
Ciliopathies v0.286 C2CD3 Zornitza Stark Gene: c2cd3 has been classified as Green List (High Evidence).
Ciliopathies v0.286 C2CD3 Zornitza Stark Phenotypes for gene: C2CD3 were changed from to Orofaciodigital syndrome XIV, MIM# 615948; MONDO:0014413
Ciliopathies v0.285 C2CD3 Zornitza Stark Publications for gene: C2CD3 were set to
Ciliopathies v0.284 C2CD3 Zornitza Stark Mode of inheritance for gene: C2CD3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.283 C2CD3 Zornitza Stark reviewed gene: C2CD3: Rating: GREEN; Mode of pathogenicity: None; Publications: 24997988, 26477546, 27094867, 30097616, 33875766; Phenotypes: Orofaciodigital syndrome XIV, MIM# 615948, MONDO:0014413; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.283 IFT74 Zornitza Stark Phenotypes for gene: IFT74 were changed from Bardet-Biedl syndrome 20, MIM# 617119 to Bardet-Biedl syndrome 20, MIM# 617119; Joubert syndrome
Ciliopathies v0.282 IFT74 Zornitza Stark Publications for gene: IFT74 were set to 27486776
Ciliopathies v0.281 IFT74 Chirag Patel reviewed gene: IFT74: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33531668; Phenotypes: Joubert syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.281 ARL3 Zornitza Stark Marked gene: ARL3 as ready
Ciliopathies v0.281 ARL3 Zornitza Stark Gene: arl3 has been classified as Green List (High Evidence).
Ciliopathies v0.281 MAPKBP1 Zornitza Stark Marked gene: MAPKBP1 as ready
Ciliopathies v0.281 MAPKBP1 Zornitza Stark Gene: mapkbp1 has been classified as Green List (High Evidence).
Ciliopathies v0.281 MAPKBP1 Zornitza Stark Phenotypes for gene: MAPKBP1 were changed from to Nephronophthisis 20, MIM# 617271; MONDO:0014997
Ciliopathies v0.280 MAPKBP1 Zornitza Stark Publications for gene: MAPKBP1 were set to
Ciliopathies v0.279 MAPKBP1 Zornitza Stark Mode of inheritance for gene: MAPKBP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.278 MAPKBP1 Zornitza Stark reviewed gene: MAPKBP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28089251, 33623699, 32505465, 32055034; Phenotypes: Nephronophthisis 20, MIM# 617271, MONDO:0014997; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.278 INTU Zornitza Stark Marked gene: INTU as ready
Ciliopathies v0.278 INTU Zornitza Stark Gene: intu has been classified as Green List (High Evidence).
Ciliopathies v0.278 INTU Zornitza Stark Classified gene: INTU as Green List (high evidence)
Ciliopathies v0.278 INTU Zornitza Stark Gene: intu has been classified as Green List (High Evidence).
Ciliopathies v0.277 INTU Elena Savva gene: INTU was added
gene: INTU was added to Ciliopathies. Sources: Literature
Mode of inheritance for gene: INTU was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: INTU were set to PMID: 27158779; 29451301; 20067783
Phenotypes for gene: INTU were set to ?Orofaciodigital syndrome XVII MIM#617926; ?Short-rib thoracic dysplasia 20 with polydactyly MIM#617925
Review for gene: INTU was set to GREEN
Added comment: PMID: 27158779 - 1 hom (PTC) and 1 chet (PTC/missense) patient with OFD or Short-rib thoracic dysplasia

PMID: 20067783 - null mouse model exhibits severe polydactyly, lethal midgestation, exhibiting multiple defects including neural tube closure defects, abnormal dorsal/ventral patterning of the central nervous system

PMID: 29451301 - 1 chet patient (missense/CNV) with OFD and polydactyly
Sources: Literature
Ciliopathies v0.277 NEK1 Zornitza Stark Marked gene: NEK1 as ready
Ciliopathies v0.277 NEK1 Zornitza Stark Gene: nek1 has been classified as Green List (High Evidence).
Ciliopathies v0.277 NEK1 Zornitza Stark Phenotypes for gene: NEK1 were changed from to Short-rib thoracic dysplasia 6 with or without polydactyly, MIM# 263520
Ciliopathies v0.276 NEK1 Zornitza Stark Publications for gene: NEK1 were set to
Ciliopathies v0.275 NEK1 Zornitza Stark Mode of inheritance for gene: NEK1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.274 NEK1 Zornitza Stark reviewed gene: NEK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21211617, 22499340, 25492405, 28123176; Phenotypes: Short-rib thoracic dysplasia 6 with or without polydactyly, MIM# 263520; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.274 XPNPEP3 Zornitza Stark Publications for gene: XPNPEP3 were set to 20179356
Ciliopathies v0.273 XPNPEP3 Zornitza Stark Classified gene: XPNPEP3 as Green List (high evidence)
Ciliopathies v0.273 XPNPEP3 Zornitza Stark Gene: xpnpep3 has been classified as Green List (High Evidence).
Ciliopathies v0.272 XPNPEP3 Zornitza Stark edited their review of gene: XPNPEP3: Added comment: PMID 20179356: two families with 5 individuals reported. Functional data, including animal models, supportive evidence for involvement in ciliary function.

PMID 32660933: Additional case reported.; Changed rating: GREEN; Changed publications: 32660933, 20179356
Ciliopathies v0.272 WDR35 Zornitza Stark Marked gene: WDR35 as ready
Ciliopathies v0.272 WDR35 Zornitza Stark Gene: wdr35 has been classified as Green List (High Evidence).
Ciliopathies v0.272 WDR35 Zornitza Stark Phenotypes for gene: WDR35 were changed from to Cranioectodermal dysplasia 2, MIM#613610; MONDO:0013323; Short-rib thoracic dysplasia 7 with or without polydactyly, MIM#614091; MONDO:0013569
Ciliopathies v0.271 WDR35 Zornitza Stark Publications for gene: WDR35 were set to
Ciliopathies v0.270 WDR35 Zornitza Stark Mode of inheritance for gene: WDR35 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.269 WDR35 Zornitza Stark reviewed gene: WDR35: Rating: GREEN; Mode of pathogenicity: None; Publications: 33421337, 29134781, 28870638, 26691894, 24027799, 21473986; Phenotypes: Cranioectodermal dysplasia 2, MIM#613610, MONDO:0013323, Short-rib thoracic dysplasia 7 with or without polydactyly, MIM#614091, MONDO:0013569; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.269 TMEM231 Zornitza Stark Marked gene: TMEM231 as ready
Ciliopathies v0.269 TMEM231 Zornitza Stark Gene: tmem231 has been classified as Green List (High Evidence).
Ciliopathies v0.269 TMEM231 Zornitza Stark Phenotypes for gene: TMEM231 were changed from to Joubert syndrome 20, MIM# 614970; MONDO:0013994; Meckel syndrome 11, MIM# 615397; MONDO:0014164
Ciliopathies v0.268 TMEM231 Zornitza Stark Publications for gene: TMEM231 were set to
Ciliopathies v0.267 TMEM231 Zornitza Stark Mode of inheritance for gene: TMEM231 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.266 TMEM231 Zornitza Stark reviewed gene: TMEM231: Rating: GREEN; Mode of pathogenicity: None; Publications: 23012439, 23349226, 22179047, 30617574, 27449316, 31663672, 25869670; Phenotypes: Joubert syndrome 20, MIM# 614970, MONDO:0013994, Meckel syndrome 11, MIM# 615397, MONDO:0014164; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.266 TMEM216 Zornitza Stark Tag founder tag was added to gene: TMEM216.
Ciliopathies v0.266 TMEM216 Zornitza Stark Marked gene: TMEM216 as ready
Ciliopathies v0.266 TMEM216 Zornitza Stark Gene: tmem216 has been classified as Green List (High Evidence).
Ciliopathies v0.266 TMEM216 Zornitza Stark Phenotypes for gene: TMEM216 were changed from to Joubert syndrome 2, MIM# 608091; MONDO:0011963; Meckel syndrome 2, MIM# 603194; MONDO:0011296
Ciliopathies v0.265 TMEM216 Zornitza Stark Publications for gene: TMEM216 were set to
Ciliopathies v0.264 TMEM216 Zornitza Stark Mode of inheritance for gene: TMEM216 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.263 TMEM216 Zornitza Stark reviewed gene: TMEM216: Rating: GREEN; Mode of pathogenicity: None; Publications: 20036350, 20512146; Phenotypes: Joubert syndrome 2, MIM# 608091, Meckel syndrome 2, MIM# 603194; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.263 TMEM138 Zornitza Stark Marked gene: TMEM138 as ready
Ciliopathies v0.263 TMEM138 Zornitza Stark Gene: tmem138 has been classified as Green List (High Evidence).
Ciliopathies v0.263 TMEM138 Zornitza Stark Phenotypes for gene: TMEM138 were changed from to Joubert syndrome 16, MIM# 614465; MONDO:0013764
Ciliopathies v0.262 TMEM138 Zornitza Stark Publications for gene: TMEM138 were set to
Ciliopathies v0.261 TMEM138 Zornitza Stark Mode of inheritance for gene: TMEM138 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.260 TMEM138 Zornitza Stark reviewed gene: TMEM138: Rating: GREEN; Mode of pathogenicity: None; Publications: 22282472, 28102635, 27434533; Phenotypes: Joubert syndrome 16, MIM# 614465, MONDO:0013764; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.260 TCTN2 Zornitza Stark Marked gene: TCTN2 as ready
Ciliopathies v0.260 TCTN2 Zornitza Stark Gene: tctn2 has been classified as Green List (High Evidence).
Ciliopathies v0.260 TCTN2 Zornitza Stark Phenotypes for gene: TCTN2 were changed from to Joubert syndrome 24, MIM# 616654; MONDO:0014724; Meckel syndrome 8, MIM# 613885; MONDO:0013482
Ciliopathies v0.259 TCTN2 Zornitza Stark Publications for gene: TCTN2 were set to
Ciliopathies v0.258 TCTN2 Zornitza Stark Mode of inheritance for gene: TCTN2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.257 TCTN2 Zornitza Stark reviewed gene: TCTN2: Rating: GREEN; Mode of pathogenicity: None; Publications: 21462283, 21565611, 25118024, 21725307, 32139166, 25118024, 32655147, 33590725; Phenotypes: Joubert syndrome 24, MIM# 616654, MONDO:0014724, Meckel syndrome 8, MIM# 613885, MONDO:0013482; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.257 TCTN1 Zornitza Stark Marked gene: TCTN1 as ready
Ciliopathies v0.257 TCTN1 Zornitza Stark Gene: tctn1 has been classified as Green List (High Evidence).
Ciliopathies v0.257 TCTN1 Zornitza Stark Phenotypes for gene: TCTN1 were changed from to Joubert syndrome 13, MIM# 614173; MONDO:0013608
Ciliopathies v0.256 TCTN1 Zornitza Stark Publications for gene: TCTN1 were set to
Ciliopathies v0.255 TCTN1 Zornitza Stark Mode of inheritance for gene: TCTN1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.254 TCTN1 Zornitza Stark reviewed gene: TCTN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21725307, 26477546, 31302911, 26489806, 22693042; Phenotypes: Joubert syndrome 13, MIM# 614173, MONDO:0013608; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.254 ANKS6 Zornitza Stark Marked gene: ANKS6 as ready
Ciliopathies v0.254 ANKS6 Zornitza Stark Gene: anks6 has been classified as Green List (High Evidence).
Ciliopathies v0.254 ANKS6 Zornitza Stark Phenotypes for gene: ANKS6 were changed from to Nephronophthisis 16, MIM# 615382; MONDO:0014158
Ciliopathies v0.253 ANKS6 Zornitza Stark Publications for gene: ANKS6 were set to
Ciliopathies v0.252 ANKS6 Zornitza Stark Mode of inheritance for gene: ANKS6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.251 ANKS6 Zornitza Stark reviewed gene: ANKS6: Rating: GREEN; Mode of pathogenicity: None; Publications: 23793029, 31678577, 31635528, 26039630, 24610927; Phenotypes: Nephronophthisis 16, MIM# 615382, MONDO:0014158; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.251 GLIS2 Zornitza Stark Phenotypes for gene: GLIS2 were changed from Nephronophthisis 7, OMIM#611498 to Nephronophthisis 7, OMIM#611498; MONDO:0012680
Ciliopathies v0.250 GLIS2 Zornitza Stark Publications for gene: GLIS2 were set to 17618285, 23559409
Ciliopathies v0.249 GLIS2 Zornitza Stark edited their review of gene: GLIS2: Changed publications: 17618285, 23559409, 31676329; Changed phenotypes: Nephronophthisis 7, OMIM#611498, MONDO:0012680
Ciliopathies v0.249 MKS1 Zornitza Stark Marked gene: MKS1 as ready
Ciliopathies v0.249 MKS1 Zornitza Stark Gene: mks1 has been classified as Green List (High Evidence).
Ciliopathies v0.249 MKS1 Zornitza Stark Phenotypes for gene: MKS1 were changed from to Joubert syndrome 28, MIM# 617121; MONDO:0014928; Meckel syndrome 1, MIM# 249000; MONDO:0009571; Bardet-Biedl syndrome 13, MIM# 615990; MONDO:0014441
Ciliopathies v0.248 MKS1 Zornitza Stark Publications for gene: MKS1 were set to
Ciliopathies v0.247 MKS1 Zornitza Stark Mode of inheritance for gene: MKS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.246 MKS1 Zornitza Stark reviewed gene: MKS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17377820, 24886560, 19776033, 33193692, 27570071, 27377014, 18327255, 24608809; Phenotypes: Joubert syndrome 28, MIM# 617121, MONDO:0014928, Meckel syndrome 1, MIM# 249000, MONDO:0009571, Bardet-Biedl syndrome 13, MIM# 615990, MONDO:0014441; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.246 INPP5E Zornitza Stark edited their review of gene: INPP5E: Changed publications: 19668216, 32139166, 29230161, 29052317, 27998989, 27401686, 19668215
Ciliopathies v0.246 INPP5E Zornitza Stark Marked gene: INPP5E as ready
Ciliopathies v0.246 INPP5E Zornitza Stark Gene: inpp5e has been classified as Green List (High Evidence).
Ciliopathies v0.246 INPP5E Zornitza Stark Publications for gene: INPP5E were set to 19668216; 32139166; 29230161; 29052317; 27998989; 27401686
Ciliopathies v0.245 INPP5E Zornitza Stark Phenotypes for gene: INPP5E were changed from to Joubert syndrome 1, MIM# 213300; MONDO:0008944; Mental retardation, truncal obesity, retinal dystrophy, and micropenis, MIM# 610156; MONDO:0012423
Ciliopathies v0.244 INPP5E Zornitza Stark Publications for gene: INPP5E were set to
Ciliopathies v0.243 INPP5E Zornitza Stark Mode of inheritance for gene: INPP5E was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.242 INPP5E Zornitza Stark reviewed gene: INPP5E: Rating: GREEN; Mode of pathogenicity: None; Publications: 19668216, 32139166, 29230161, 29052317, 27998989, 27401686; Phenotypes: Joubert syndrome 1, MIM# 213300, MONDO:0008944, Mental retardation, truncal obesity, retinal dystrophy, and micropenis, MIM# 610156, MONDO:0012423; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.242 CSPP1 Zornitza Stark changed review comment from: More than 20 unrelated families reported.; to: More than 20 unrelated families reported. Classically associated with Joubert syndrome; however, note 4 individuals reported with features consistent with Jeune asphyxiating thoracic dystrophy, including short ribs, bell-shaped chest, and pulmonary hypoplasia.
Ciliopathies v0.242 CSPP1 Zornitza Stark Marked gene: CSPP1 as ready
Ciliopathies v0.242 CSPP1 Zornitza Stark Gene: cspp1 has been classified as Green List (High Evidence).
Ciliopathies v0.242 CSPP1 Zornitza Stark Phenotypes for gene: CSPP1 were changed from Joubert syndrome 21, MIM# 615636 to Joubert syndrome 21, MIM# 615636; MONDO:0014288
Ciliopathies v0.241 CSPP1 Zornitza Stark Phenotypes for gene: CSPP1 were changed from to Joubert syndrome 21, MIM# 615636
Ciliopathies v0.240 CSPP1 Zornitza Stark Publications for gene: CSPP1 were set to
Ciliopathies v0.239 CSPP1 Zornitza Stark Mode of inheritance for gene: CSPP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.238 CSPP1 Zornitza Stark reviewed gene: CSPP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24360808, 24360803, 24360807, 25997910; Phenotypes: Joubert syndrome 21, MIM# 615636; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.238 CEP41 Zornitza Stark Marked gene: CEP41 as ready
Ciliopathies v0.238 CEP41 Zornitza Stark Gene: cep41 has been classified as Green List (High Evidence).
Ciliopathies v0.238 CEP41 Zornitza Stark Phenotypes for gene: CEP41 were changed from to Joubert syndrome 15, MIM# 614464
Ciliopathies v0.237 CEP41 Zornitza Stark Publications for gene: CEP41 were set to
Ciliopathies v0.236 CEP41 Zornitza Stark Mode of inheritance for gene: CEP41 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.235 CEP41 Zornitza Stark reviewed gene: CEP41: Rating: GREEN; Mode of pathogenicity: None; Publications: 22246503; Phenotypes: Joubert syndrome 15, MIM# 614464; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.235 INVS Zornitza Stark Marked gene: INVS as ready
Ciliopathies v0.235 INVS Zornitza Stark Gene: invs has been classified as Green List (High Evidence).
Ciliopathies v0.235 INVS Zornitza Stark Phenotypes for gene: INVS were changed from to Nephronophthisis 2, infantile, (MIM#602088)
Ciliopathies v0.234 INVS Zornitza Stark Publications for gene: INVS were set to
Ciliopathies v0.233 INVS Zornitza Stark Mode of inheritance for gene: INVS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.232 INVS Paul De Fazio reviewed gene: INVS: Rating: GREEN; Mode of pathogenicity: None; Publications: 12872123, 19177160; Phenotypes: Nephronophthisis 2, infantile, (MIM#602088); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Ciliopathies v0.232 CRB2 Zornitza Stark Marked gene: CRB2 as ready
Ciliopathies v0.232 CRB2 Zornitza Stark Gene: crb2 has been classified as Green List (High Evidence).
Ciliopathies v0.232 CRB2 Zornitza Stark Phenotypes for gene: CRB2 were changed from to Ventriculomegaly with cystic kidney disease, MIM# 219730
Ciliopathies v0.231 CRB2 Zornitza Stark Publications for gene: CRB2 were set to
Ciliopathies v0.230 CRB2 Zornitza Stark Mode of inheritance for gene: CRB2 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.230 CRB2 Zornitza Stark Mode of inheritance for gene: CRB2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.229 CRB2 Zornitza Stark reviewed gene: CRB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25557780, 33687977, 32051522, 30212996, 33575434, 31438467, 30593785; Phenotypes: Ventriculomegaly with cystic kidney disease, MIM# 219730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.229 TOGARAM1 Zornitza Stark edited their review of gene: TOGARAM1: Changed phenotypes: Joubert syndrome 37, MIM# 619185
Ciliopathies v0.229 TOGARAM1 Zornitza Stark Phenotypes for gene: TOGARAM1 were changed from Cleft of the lip and palate; Microphthalmia; Cerebral dysgenesis; Hydrocephalus to Joubert syndrome 37, MIM# 619185
Ciliopathies v0.228 TOGARAM1 Zornitza Stark Publications for gene: TOGARAM1 were set to 32747439
Ciliopathies v0.227 TOGARAM1 Zornitza Stark Classified gene: TOGARAM1 as Green List (high evidence)
Ciliopathies v0.227 TOGARAM1 Zornitza Stark Gene: togaram1 has been classified as Green List (High Evidence).
Ciliopathies v0.226 TOGARAM1 Zornitza Stark edited their review of gene: TOGARAM1: Added comment: PMID 32453716: 5 unrelated individuals with Joubert syndrome.; Changed rating: GREEN; Changed publications: 32747439, 32453716
Ciliopathies v0.226 AHI1 Zornitza Stark Marked gene: AHI1 as ready
Ciliopathies v0.226 AHI1 Zornitza Stark Gene: ahi1 has been classified as Green List (High Evidence).
Ciliopathies v0.226 AHI1 Zornitza Stark Phenotypes for gene: AHI1 were changed from to Joubert syndrome 3, MIM# 608629
Ciliopathies v0.225 AHI1 Zornitza Stark Publications for gene: AHI1 were set to
Ciliopathies v0.224 AHI1 Zornitza Stark Mode of inheritance for gene: AHI1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.223 AHI1 Zornitza Stark reviewed gene: AHI1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15322546, 15467982, 16155189; Phenotypes: Joubert syndrome 3, MIM# 608629; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.223 CBY1 Bryony Thompson Marked gene: CBY1 as ready
Ciliopathies v0.223 CBY1 Bryony Thompson Gene: cby1 has been classified as Green List (High Evidence).
Ciliopathies v0.223 CBY1 Bryony Thompson Classified gene: CBY1 as Green List (high evidence)
Ciliopathies v0.223 CBY1 Bryony Thompson Gene: cby1 has been classified as Green List (High Evidence).
Ciliopathies v0.222 CBY1 Bryony Thompson gene: CBY1 was added
gene: CBY1 was added to Ciliopathies. Sources: Literature
Mode of inheritance for gene: CBY1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CBY1 were set to 33131181; 25103236; 25220153
Phenotypes for gene: CBY1 were set to intellectual disability; cerebellar ataxia; molar tooth sign; polydactyly; Joubert syndrome
Review for gene: CBY1 was set to GREEN
Added comment: Three cases in two unrelated consanguineous families with homozygous loss of function variants. Multiple null model organisms recapitulate the human phenotype: Null mouse model had cystic kidneys, a phenotype common to ciliopathies. Reducing Cby levels in Xenopus laevis model reduced the density of multiciliated cells, the number of basal bodies per multiciliated cell, and the numbers of neural tube primary cilia; it also led to abnormal development of the neural crest, central nervous system, and pronephros. Depletion of cby1 in zebrafish results in ciliopathy‐related phenotypes.
Sources: Literature
Ciliopathies v0.221 PRKACB Zornitza Stark Phenotypes for gene: PRKACB were changed from Postaxial hand polydactyly; Postaxial foot polydactyly; Common atrium; Atrioventricular canal defect; Narrow chest; Abnormality of the teeth; Intellectual disability to Cardioacrofacial dysplasia 2, MIM# 619143; Postaxial hand polydactyly; Postaxial foot polydactyly; Common atrium; Atrioventricular canal defect; Narrow chest; Abnormality of the teeth; Intellectual disability
Ciliopathies v0.220 PRKACB Zornitza Stark edited their review of gene: PRKACB: Changed phenotypes: Cardioacrofacial dysplasia 2, MIM# 619143, Postaxial hand polydactyly, Postaxial foot polydactyly, Common atrium, Atrioventricular canal defect, Narrow chest, Abnormality of the teeth, Intellectual disability
Ciliopathies v0.220 PRKACA Zornitza Stark Phenotypes for gene: PRKACA were changed from Postaxial hand polydactyly; Postaxial foot polydactyly; Common atrium; Atrioventricular canal defect; Narrow chest; Abnormality of the teeth; Intellectual disability to Cardioacrofacial dysplasia 1, MIM# 619142; Postaxial hand polydactyly; Postaxial foot polydactyly; Common atrium; Atrioventricular canal defect; Narrow chest; Abnormality of the teeth; Intellectual disability
Ciliopathies v0.219 PRKACA Zornitza Stark edited their review of gene: PRKACA: Changed phenotypes: Cardioacrofacial dysplasia 1, MIM# 619142, Postaxial hand polydactyly, Postaxial foot polydactyly, Common atrium, Atrioventricular canal defect, Narrow chest, Abnormality of the teeth, Intellectual disability
Ciliopathies v0.219 CCDC32 Zornitza Stark Phenotypes for gene: CCDC32 were changed from Cardiofacioneurodevelopmental syndrome (CFNDS), MIM#619123; Craniofacial, cardiac, laterality and neurodevelopmental anomalies to Cardiofacioneurodevelopmental syndrome (CFNDS), MIM#619123; Craniofacial, cardiac, laterality and neurodevelopmental anomalies
Ciliopathies v0.219 CCDC32 Zornitza Stark Phenotypes for gene: CCDC32 were changed from Craniofacial, cardiac, laterality and neurodevelopmental anomalies to Cardiofacioneurodevelopmental syndrome (CFNDS), MIM#619123; Craniofacial, cardiac, laterality and neurodevelopmental anomalies
Ciliopathies v0.218 CCDC32 Zornitza Stark edited their review of gene: CCDC32: Changed phenotypes: Cardiofacioneurodevelopmental syndrome (CFNDS), MIM#619123, Craniofacial, cardiac, laterality and neurodevelopmental anomalies
Ciliopathies v0.218 CC2D2A Zornitza Stark Phenotypes for gene: CC2D2A were changed from COACH syndrome, 216360; Joubert syndrome 9, 612285; Meckel syndrome 6, 612284 to COACH syndrome 2, MIM# 619111; Joubert syndrome 9, 612285; Meckel syndrome 6, 612284
Ciliopathies v0.217 CC2D2A Zornitza Stark reviewed gene: CC2D2A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: COACH syndrome 2, MIM# 619111; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.217 PRKACA Zornitza Stark Marked gene: PRKACA as ready
Ciliopathies v0.217 PRKACA Zornitza Stark Gene: prkaca has been classified as Green List (High Evidence).
Ciliopathies v0.217 PRKACA Zornitza Stark Classified gene: PRKACA as Green List (high evidence)
Ciliopathies v0.217 PRKACA Zornitza Stark Gene: prkaca has been classified as Green List (High Evidence).
Ciliopathies v0.216 PRKACA Zornitza Stark gene: PRKACA was added
gene: PRKACA was added to Ciliopathies. Sources: Literature
Mode of inheritance for gene: PRKACA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PRKACA were set to 33058759; 31130284
Phenotypes for gene: PRKACA were set to Postaxial hand polydactyly; Postaxial foot polydactyly; Common atrium; Atrioventricular canal defect; Narrow chest; Abnormality of the teeth; Intellectual disability
Mode of pathogenicity for gene: PRKACA was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: PRKACA was set to GREEN
Added comment: Palencia-Campos et al (2020 - PMID: 33058759) report on the phenotype of 3 individuals heterozygous for PRKACA and 4 individuals heterozygous for PRKACB pathogenic variants.

Gene included in this panel due to significant overlap with ciliopathies.

The most characteristic features in all individuals with PRKACA/PRKACB mutation, included postaxial polydactyly of hands (6/7 bilateral, 1/7 unilateral) and feet (4/7 bilateral, 1/7 unilateral), brachydactyly and congenital heart defects (CHD 5/7) namely a common atrium or AVSD. Two individuals with PRKACA variant who did not have CHD had offspring with the same variant and an AVSD.

Other variably occurring features included short stature, limbs, narrow chest, abnormal teeth, oral frenula, nail dysplasia. One individual with PRKACB variant presented tumors.

Intellectual disability was reported in 2/4 individuals with PRKACB variant (1/4: mild, 1/4: severe). The 3 individuals with PRKACA variant did not present ID.

As the phenotype was overall suggestive of Ellis-van Creveld syndrome (or the allelic Weyers acrofacial dysostosis), although these diagnoses were ruled out following analysis of EVC and EVC2 genes.

WES was carried out in all.

PRKACA : A single heterozygous missense variant was identified in 3 individuals from 3 families (NM_002730.4:c.409G>A / p.Gly137Arg) with 1 of the probands harboring the variant in mosaic state (28% of reads) and having 2 similarly affected offspring. The variant was de novo in one individual and inherited in a third one having a similarly affected fetus (narrow thorax, postaxial polyd, AVSD).

PRKACB : 4 different variants were identified (NM_002731.3: p.His88Arg/Asn, p.Gly235Arg, c.161C>T - p.Ser54Leu). One of the individuals was mosaic for the latter variant, while in all other cases the variant had occurred de novo.

Protein kinase A (PKA) is a tetrameric holoenzyme formed by the association of 2 catalytic (C) subunits with a regulatory (R) subunit dimer. Activation of PKA is achieved through binding of 2 cAMP molecules to each R-subunit, and unleashing(/dissociation) of C-subunits to engage substrates. PRKACA/B genes encode the Cα- and Cβ-subunits while the 4 functionally non-redundant regulatory subunits are encoded by PRKAR1A/1B/2A/2B genes.

The authors provide evidence that the variants confer increased sensitivity of PKA holoenzymes to activation by cAMP (compared to wt).

By performing ectopic expression of wt or mt PRKACA/B (variants studied : PRKACA p.Gly137Arg / PRKACB p.Gly235Arg) in NIH 3T3 fibroblasts, the authors demonstrate that inhibition of hedgehog signaling likely underlyies the developmental defects observed in affected individuals.

As for PRKACA, the authors cite another study where a 31-month old female with EvC syndrome diagnosis was found to harbor the aforementioned variant (NM_001304349.1:c.637G>A:p.Gly213Arg corresponding to NM_002730.4:c.409G>A / p.Gly137Arg) as a de novo event. Without additional evidence at the time, the variant was considered to be a candidate for this subject's phenotype (Monies et al 2019 – PMID: 31130284).
Sources: Literature
Ciliopathies v0.215 PRKACB Zornitza Stark Marked gene: PRKACB as ready
Ciliopathies v0.215 PRKACB Zornitza Stark Gene: prkacb has been classified as Green List (High Evidence).
Ciliopathies v0.215 PRKACB Zornitza Stark Classified gene: PRKACB as Green List (high evidence)
Ciliopathies v0.215 PRKACB Zornitza Stark Gene: prkacb has been classified as Green List (High Evidence).
Ciliopathies v0.214 PRKACB Zornitza Stark gene: PRKACB was added
gene: PRKACB was added to Ciliopathies. Sources: Literature
Mode of inheritance for gene: PRKACB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PRKACB were set to 33058759
Phenotypes for gene: PRKACB were set to Postaxial hand polydactyly; Postaxial foot polydactyly; Common atrium; Atrioventricular canal defect; Narrow chest; Abnormality of the teeth; Intellectual disability
Mode of pathogenicity for gene: PRKACB was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: PRKACB was set to GREEN
Added comment: Palencia-Campos et al (2020 - PMID: 33058759) report on the phenotype of 3 individuals heterozygous for PRKACA and 4 individuals heterozygous for PRKACB pathogenic variants.

Gene included in this panel due to significant phenotypic overlap with ciliopathies.

The most characteristic features in all individuals with PRKACA/PRKACB mutation, included postaxial polydactyly of hands (6/7 bilateral, 1/7 unilateral) and feet (4/7 bilateral, 1/7 unilateral), brachydactyly and congenital heart defects (CHD 5/7) namely a common atrium or AVSD. Two individuals with PRKACA variant who did not have CHD had offspring with the same variant and an AVSD.

Other variably occurring features included short stature, limbs, narrow chest, abnormal teeth, oral frenula, nail dysplasia. One individual with PRKACB variant presented tumors.

Intellectual disability was reported in 2/4 individuals with PRKACB variant (1/4: mild, 1/4: severe). The 3 individuals with PRKACA variant did not present ID.

As the phenotype was overall suggestive of Ellis-van Creveld syndrome (or the allelic Weyers acrofacial dysostosis), although these diagnoses were ruled out following analysis of EVC and EVC2 genes.

WES was carried out in all.

PRKACA : A single heterozygous missense variant was identified in 3 individuals from 3 families (NM_002730.4:c.409G>A / p.Gly137Arg) with 1 of the probands harboring the variant in mosaic state (28% of reads) and having 2 similarly affected offspring. The variant was de novo in one individual and inherited in a third one having a similarly affected fetus (narrow thorax, postaxial polyd, AVSD).

PRKACB : 4 different variants were identified (NM_002731.3: p.His88Arg/Asn, p.Gly235Arg, c.161C>T - p.Ser54Leu). One of the individuals was mosaic for the latter variant, while in all other cases the variant had occurred de novo.

Protein kinase A (PKA) is a tetrameric holoenzyme formed by the association of 2 catalytic (C) subunits with a regulatory (R) subunit dimer. Activation of PKA is achieved through binding of 2 cAMP molecules to each R-subunit, and unleashing(/dissociation) of C-subunits to engage substrates. PRKACA/B genes encode the Cα- and Cβ-subunits while the 4 functionally non-redundant regulatory subunits are encoded by PRKAR1A/1B/2A/2B genes.

The authors provide evidence that the variants confer increased sensitivity of PKA holoenzymes to activation by cAMP (compared to wt).

By performing ectopic expression of wt or mt PRKACA/B (variants studied : PRKACA p.Gly137Arg / PRKACB p.Gly235Arg) in NIH 3T3 fibroblasts, the authors demonstrate that inhibition of hedgehog signaling likely underlyies the developmental defects observed in affected individuals.

As for PRKACA, the authors cite another study where a 31-month old female with EvC syndrome diagnosis was found to harbor the aforementioned variant (NM_001304349.1:c.637G>A:p.Gly213Arg corresponding to NM_002730.4:c.409G>A / p.Gly137Arg) as a de novo event. Without additional evidence at the time, the variant was considered to be a candidate for this subject's phenotype (Monies et al 2019 – PMID: 31130284).
Sources: Literature
Ciliopathies v0.213 PIBF1 Zornitza Stark Publications for gene: PIBF1 were set to PMID:26167768; 30858804; 29695797
Ciliopathies v0.212 PIBF1 Zornitza Stark reviewed gene: PIBF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33004012; Phenotypes: Joubert syndrome 33, OMIM #617767; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.212 WDPCP Zornitza Stark Phenotypes for gene: WDPCP were changed from Bardet-Biedl syndrome 15, MIM# 615992; OFD; Congenital heart defects, hamartomas of tongue, and polysyndactyly, 217085 to Bardet-Biedl syndrome 15, MIM# 615992; OFD; Congenital heart defects, hamartomas of tongue, and polysyndactyly, 217085
Ciliopathies v0.212 WDPCP Zornitza Stark Phenotypes for gene: WDPCP were changed from Bardet-Biedl syndrome 15, MIM# 615992 to Bardet-Biedl syndrome 15, MIM# 615992; OFD; Congenital heart defects, hamartomas of tongue, and polysyndactyly, 217085
Ciliopathies v0.211 WDPCP Zornitza Stark Publications for gene: WDPCP were set to 20671153; 25427950
Ciliopathies v0.210 WDPCP Zornitza Stark Classified gene: WDPCP as Green List (high evidence)
Ciliopathies v0.210 WDPCP Zornitza Stark Gene: wdpcp has been classified as Green List (High Evidence).
Ciliopathies v0.209 WDPCP Zornitza Stark edited their review of gene: WDPCP: Added comment: Four families reported with ciliopathy phenotypes, including BBS, OFD, syndromic retinopathy.; Changed rating: GREEN; Changed publications: 20671153, 25427950, 32055034, 29588463, 28289185
Ciliopathies v0.209 IFT122 Zornitza Stark Marked gene: IFT122 as ready
Ciliopathies v0.209 IFT122 Zornitza Stark Gene: ift122 has been classified as Green List (High Evidence).
Ciliopathies v0.209 IFT122 Zornitza Stark Phenotypes for gene: IFT122 were changed from to Cranioectodermal dysplasia 1, MIM# 218330; Beemer-Langer syndrome
Ciliopathies v0.208 IFT122 Zornitza Stark Publications for gene: IFT122 were set to
Ciliopathies v0.207 IFT122 Zornitza Stark Mode of inheritance for gene: IFT122 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.206 IFT122 Zornitza Stark reviewed gene: IFT122: Rating: GREEN; Mode of pathogenicity: None; Publications: 20493458, 23826986, 26792575, 29220510, 28370949, 27681595, 27681595; Phenotypes: Cranioectodermal dysplasia 1, MIM# 218330, Beemer-Langer syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.206 TOGARAM1 Zornitza Stark Marked gene: TOGARAM1 as ready
Ciliopathies v0.206 TOGARAM1 Zornitza Stark Gene: togaram1 has been classified as Red List (Low Evidence).
Ciliopathies v0.206 TOGARAM1 Zornitza Stark gene: TOGARAM1 was added
gene: TOGARAM1 was added to Ciliopathies. Sources: Literature
Mode of inheritance for gene: TOGARAM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TOGARAM1 were set to 32747439
Phenotypes for gene: TOGARAM1 were set to Cleft of the lip and palate; Microphthalmia; Cerebral dysgenesis; Hydrocephalus
Review for gene: TOGARAM1 was set to RED
Added comment: PMID: 32747439 (2020) - Novel gene-disease association. In two sibling fetuses with a malformation disorder characterised by microcephaly, severe cleft lip and palate, microphthalmia, and brain anomalies, WES revealed compound heterozygous variants ([c.1102C>T, p.Arg368Trp] and [c.3619C>T, p.Arg1207*]) in the TOGARAM1 gene. Functional analysis of the missense variant in a C. elegans model showed impaired lipophilic dye uptake, with shorter and altered cilia in sensory neurons. In vitro analysis revealed faster microtubule polymerisation compared to wild-type, suggesting aberrant tubulin binding.
Sources: Literature
Ciliopathies v0.205 TMEM237 Zornitza Stark Marked gene: TMEM237 as ready
Ciliopathies v0.205 TMEM237 Zornitza Stark Gene: tmem237 has been classified as Green List (High Evidence).
Ciliopathies v0.205 TMEM237 Zornitza Stark Phenotypes for gene: TMEM237 were changed from to Joubert syndrome 14, MIM# 614424
Ciliopathies v0.204 TMEM237 Zornitza Stark Publications for gene: TMEM237 were set to
Ciliopathies v0.203 TMEM237 Zornitza Stark Mode of inheritance for gene: TMEM237 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.202 TMEM237 Zornitza Stark reviewed gene: TMEM237: Rating: GREEN; Mode of pathogenicity: None; Publications: 22152675; Phenotypes: Joubert syndrome 14, MIM# 614424; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.202 HYLS1 Zornitza Stark Publications for gene: HYLS1 were set to 15843405; 18648327; 19400947; 19656802; 32509774
Ciliopathies v0.201 HYLS1 Zornitza Stark Marked gene: HYLS1 as ready
Ciliopathies v0.201 HYLS1 Zornitza Stark Gene: hyls1 has been classified as Green List (High Evidence).
Ciliopathies v0.201 HYLS1 Zornitza Stark Phenotypes for gene: HYLS1 were changed from to Hydrolethalus syndrome (MIM#236680)
Ciliopathies v0.200 HYLS1 Zornitza Stark Publications for gene: HYLS1 were set to
Ciliopathies v0.199 HYLS1 Zornitza Stark Mode of inheritance for gene: HYLS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.198 HYLS1 Zornitza Stark Tag founder tag was added to gene: HYLS1.
Ciliopathies v0.198 HYLS1 Zornitza Stark reviewed gene: HYLS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15843405, 18648327, 19400947, 19656802, 32509774; Phenotypes: Hydrolethalus syndrome (MIM#236680); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.198 DLG5 Zornitza Stark Marked gene: DLG5 as ready
Ciliopathies v0.198 DLG5 Zornitza Stark Gene: dlg5 has been classified as Green List (High Evidence).
Ciliopathies v0.198 DLG5 Zornitza Stark Classified gene: DLG5 as Green List (high evidence)
Ciliopathies v0.198 DLG5 Zornitza Stark Gene: dlg5 has been classified as Green List (High Evidence).
Ciliopathies v0.197 DLG5 Zornitza Stark gene: DLG5 was added
gene: DLG5 was added to Ciliopathies. Sources: Literature
Mode of inheritance for gene: DLG5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DLG5 were set to 32631816
Phenotypes for gene: DLG5 were set to Cystic kidneys, nephrotic syndrome, hydrocephalus, limb abnormalities, congenital heart disease and craniofacial malformations
Review for gene: DLG5 was set to GREEN
Added comment: Four unrelated families reported, supportive Xenopus animal model data.
Sources: Literature
Ciliopathies v0.195 TBC1D32 Zornitza Stark Publications for gene: TBC1D32 were set to 24285566
Ciliopathies v0.194 TBC1D32 Zornitza Stark Classified gene: TBC1D32 as Amber List (moderate evidence)
Ciliopathies v0.194 TBC1D32 Zornitza Stark Gene: tbc1d32 has been classified as Amber List (Moderate Evidence).
Ciliopathies v0.193 TBC1D32 Russell Gear reviewed gene: TBC1D32: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 32573025, PMID: 32060556; Phenotypes: Orofacial digital syndrome type IX, syndromic hypopituitarism; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.193 KIF3B Zornitza Stark Phenotypes for gene: KIF3B were changed from hepatic fibrosis; retinitis pigmentosa; postaxial polydactyly to hepatic fibrosis; retinitis pigmentosa; postaxial polydactyly; Retinitis pigmentosa 89, MIM#618955
Ciliopathies v0.192 KIF3B Zornitza Stark edited their review of gene: KIF3B: Changed phenotypes: hepatic fibrosis, retinitis pigmentosa, postaxial polydactyly, Retinitis pigmentosa 89, MIM#618955
Ciliopathies v0.192 CCDC32 Zornitza Stark Marked gene: CCDC32 as ready
Ciliopathies v0.192 CCDC32 Zornitza Stark Gene: ccdc32 has been classified as Green List (High Evidence).
Ciliopathies v0.192 CCDC32 Zornitza Stark Classified gene: CCDC32 as Green List (high evidence)
Ciliopathies v0.192 CCDC32 Zornitza Stark Gene: ccdc32 has been classified as Green List (High Evidence).
Ciliopathies v0.191 CCDC32 Zornitza Stark gene: CCDC32 was added
gene: CCDC32 was added to Ciliopathies. Sources: Literature
Mode of inheritance for gene: CCDC32 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CCDC32 were set to 32307552
Phenotypes for gene: CCDC32 were set to Craniofacial, cardiac, laterality and neurodevelopmental anomalies
Review for gene: CCDC32 was set to GREEN
Added comment: Two unrelated consanguineous families with probands with homozygous frameshift variants reported. Phenotype is a congenital syndrome characterized by craniofacial, cardiac and neurodevelopmental anomalies. Functional studies in zebrafish show that ccdc32 depletion impairs cilia formation and shows a role for ccdc32 in craniofacial, brain and left/right axis development.
Sources: Literature
Ciliopathies v0.190 ARL13B Zornitza Stark Marked gene: ARL13B as ready
Ciliopathies v0.190 ARL13B Zornitza Stark Gene: arl13b has been classified as Green List (High Evidence).
Ciliopathies v0.190 ARL13B Zornitza Stark Phenotypes for gene: ARL13B were changed from to Joubert syndrome 8, MIM# 612291
Ciliopathies v0.189 ARL13B Zornitza Stark Publications for gene: ARL13B were set to
Ciliopathies v0.188 ARL13B Zornitza Stark Mode of inheritance for gene: ARL13B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.187 ARL13B Zornitza Stark reviewed gene: ARL13B: Rating: GREEN; Mode of pathogenicity: None; Publications: 18674751, 25138100, 26092869, 27894351, 29255182, 17488627; Phenotypes: Joubert syndrome 8, MIM# 612291; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.187 KIF3B Zornitza Stark Marked gene: KIF3B as ready
Ciliopathies v0.187 KIF3B Zornitza Stark Gene: kif3b has been classified as Amber List (Moderate Evidence).
Ciliopathies v0.187 KIF3B Zornitza Stark Classified gene: KIF3B as Amber List (moderate evidence)
Ciliopathies v0.187 KIF3B Zornitza Stark Gene: kif3b has been classified as Amber List (Moderate Evidence).
Ciliopathies v0.186 KIF3B Zornitza Stark gene: KIF3B was added
gene: KIF3B was added to Ciliopathies. Sources: Literature
Mode of inheritance for gene: KIF3B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KIF3B were set to 32386558
Phenotypes for gene: KIF3B were set to hepatic fibrosis; retinitis pigmentosa; postaxial polydactyly
Review for gene: KIF3B was set to AMBER
Added comment: Two unrelated families with a ciliopathy phenotype and some functional data.
Sources: Literature
Ciliopathies v0.185 ARL3 Bryony Thompson Classified gene: ARL3 as Green List (high evidence)
Ciliopathies v0.185 ARL3 Bryony Thompson Gene: arl3 has been classified as Green List (High Evidence).
Ciliopathies v0.184 ARL3 Bryony Thompson gene: ARL3 was added
gene: ARL3 was added to Ciliopathies. Sources: Literature
Mode of inheritance for gene: ARL3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARL3 were set to 30269812; 16565502
Phenotypes for gene: ARL3 were set to Joubert syndrome 35 MIM#618161
Review for gene: ARL3 was set to GREEN
Added comment: 4 patients from 2 unrelated consanguineous families with a phenotype resembling Joubert syndrome with homozygous missense mutations affecting the same residue (R149C, R149H), and supporting in vitro functional assays. All reported cases had rod-cone dystrophy. An Arl3 null mouse model has a ciliary disease phenotype affecting the kidney, biliary tract, pancreas, and retina.
Sources: Literature
Ciliopathies v0.183 CEP19 Zornitza Stark Marked gene: CEP19 as ready
Ciliopathies v0.183 CEP19 Zornitza Stark Gene: cep19 has been classified as Red List (Low Evidence).
Ciliopathies v0.183 CEP19 Zornitza Stark gene: CEP19 was added
gene: CEP19 was added to Ciliopathies. Sources: Literature
Mode of inheritance for gene: CEP19 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CEP19 were set to 29127258; 24268657
Phenotypes for gene: CEP19 were set to Bardet-Biedl syndorme
Review for gene: CEP19 was set to RED
Added comment: Single family with BBS phenotype reported with a homozygous predicted loss of function variant. Has been reported in another family with a morbid obesity syndrome.
Sources: Literature
Ciliopathies v0.182 RPGRIP1 Zornitza Stark Marked gene: RPGRIP1 as ready
Ciliopathies v0.182 RPGRIP1 Zornitza Stark Gene: rpgrip1 has been classified as Green List (High Evidence).
Ciliopathies v0.182 RPGRIP1 Zornitza Stark Classified gene: RPGRIP1 as Green List (high evidence)
Ciliopathies v0.182 RPGRIP1 Zornitza Stark Gene: rpgrip1 has been classified as Green List (High Evidence).
Ciliopathies v0.181 DHCR7 Zornitza Stark Marked gene: DHCR7 as ready
Ciliopathies v0.181 DHCR7 Zornitza Stark Gene: dhcr7 has been classified as Green List (High Evidence).
Ciliopathies v0.181 DHCR7 Zornitza Stark Classified gene: DHCR7 as Green List (high evidence)
Ciliopathies v0.181 DHCR7 Zornitza Stark Gene: dhcr7 has been classified as Green List (High Evidence).
Ciliopathies v0.180 DHCR7 Zornitza Stark reviewed gene: DHCR7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Smith-Lemli-Opitz syndrome (MIM#270400); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.180 DCDC2 Zornitza Stark Publications for gene: DCDC2 were set to 25557784
Ciliopathies v0.179 B9D1 Zornitza Stark Marked gene: B9D1 as ready
Ciliopathies v0.179 B9D1 Zornitza Stark Gene: b9d1 has been classified as Amber List (Moderate Evidence).
Ciliopathies v0.179 B9D1 Zornitza Stark Phenotypes for gene: B9D1 were changed from to Meckel syndrome 9, MIM# 614209; Joubert syndrome 27, MIM# 617120
Ciliopathies v0.178 B9D1 Zornitza Stark Publications for gene: B9D1 were set to
Ciliopathies v0.177 B9D1 Zornitza Stark Mode of inheritance for gene: B9D1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.176 B9D1 Zornitza Stark Classified gene: B9D1 as Amber List (moderate evidence)
Ciliopathies v0.176 B9D1 Zornitza Stark Gene: b9d1 has been classified as Amber List (Moderate Evidence).
Ciliopathies v0.175 TOPORS Zornitza Stark Marked gene: TOPORS as ready
Ciliopathies v0.175 TOPORS Zornitza Stark Gene: topors has been classified as Green List (High Evidence).
Ciliopathies v0.175 TOPORS Zornitza Stark Classified gene: TOPORS as Green List (high evidence)
Ciliopathies v0.175 TOPORS Zornitza Stark Gene: topors has been classified as Green List (High Evidence).
Ciliopathies v0.174 BBIP1 Zornitza Stark edited their review of gene: BBIP1: Changed publications: 24026985, 32055034
Ciliopathies v0.174 BBIP1 Zornitza Stark Publications for gene: BBIP1 were set to 24026985
Ciliopathies v0.173 TULP1 Zornitza Stark Marked gene: TULP1 as ready
Ciliopathies v0.173 TULP1 Zornitza Stark Gene: tulp1 has been classified as Green List (High Evidence).
Ciliopathies v0.173 TULP1 Zornitza Stark Classified gene: TULP1 as Green List (high evidence)
Ciliopathies v0.173 TULP1 Zornitza Stark Gene: tulp1 has been classified as Green List (High Evidence).
Ciliopathies v0.172 ZNF423 Zornitza Stark Classified gene: ZNF423 as Amber List (moderate evidence)
Ciliopathies v0.172 ZNF423 Zornitza Stark Gene: znf423 has been classified as Amber List (Moderate Evidence).
Ciliopathies v0.171 POC1B Zornitza Stark Marked gene: POC1B as ready
Ciliopathies v0.171 POC1B Zornitza Stark Gene: poc1b has been classified as Green List (High Evidence).
Ciliopathies v0.171 POC1B Zornitza Stark Phenotypes for gene: POC1B were changed from to Cone-rod dystrophy 20 (MIM#615973)
Ciliopathies v0.170 POC1B Zornitza Stark Publications for gene: POC1B were set to
Ciliopathies v0.169 POC1B Zornitza Stark Mode of inheritance for gene: POC1B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.168 RPGR Zornitza Stark Marked gene: RPGR as ready
Ciliopathies v0.168 RPGR Zornitza Stark Gene: rpgr has been classified as Green List (High Evidence).
Ciliopathies v0.168 RPGR Zornitza Stark Phenotypes for gene: RPGR were changed from to Retinitis pigmentosa 3 (MIM#300029)
Ciliopathies v0.167 RPGR Zornitza Stark Publications for gene: RPGR were set to
Ciliopathies v0.166 RPGR Zornitza Stark Mode of inheritance for gene: RPGR was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Ciliopathies v0.165 RPGRIP1 Crystle Lee gene: RPGRIP1 was added
gene: RPGRIP1 was added to Ciliopathies. Sources: Expert Review
Mode of inheritance for gene: RPGRIP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RPGRIP1 were set to 25414380; 28456785; 24997176; 28559085
Phenotypes for gene: RPGRIP1 were set to Leber congenital amaurosis 6 (MIM#613826)
Review for gene: RPGRIP1 was set to GREEN
Added comment: Plays an essential role in the photoreceptor connecting cilia (PMID: 25414380). Multiple families reported.

PMID: 28456785; Huang 2017: 3 families reported. 1 of which harboured intragenic (exon 1-22) deletion.

PMID: 24997176; Khan 2014: Reported 11 consang families with variants in RPGRIP1 but 9 of 11 harboured the same p.(Glu370Asnfs*5) variant.

PMID: 28559085; Stone 2017: 2 additional LCA patients reported.

Hameed 2003: Reported 2 different hom missense in 2 families. One of which, Ala547Ser, is present in gnomad (6704 homozygotes)

Green in Retinal disorders panel - PanelApp UK
Sources: Expert Review
Ciliopathies v0.165 DHCR7 Elena Savva gene: DHCR7 was added
gene: DHCR7 was added to Ciliopathies. Sources: Expert list
Mode of inheritance for gene: DHCR7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DHCR7 were set to PMID 23059950
Phenotypes for gene: DHCR7 were set to Smith-Lemli-Opitz syndrome (MIM#270400)
Added comment: Not a ciliopathy however presents with many overlapping JS features including central nervous system anomalies, cleft palate, postaxial polydactyly

PanelApp UK: Important differential diagnosis of ciliopathy
Sources: Expert Review
Sources: Expert list
Ciliopathies v0.165 DCDC2 Elena Savva reviewed gene: DCDC2: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 25557784, 31821705; Phenotypes: Nephronophthisis 19 616217; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.165 B9D1 Elena Savva reviewed gene: B9D1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 24886560, 21493627, 25920555; Phenotypes: ?Meckel syndrome 9 614209, Joubert syndrome 27 617120; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.165 TOPORS Crystle Lee gene: TOPORS was added
gene: TOPORS was added to Ciliopathies. Sources: Expert Review
Mode of inheritance for gene: TOPORS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TOPORS were set to 21159800; 17924349; 28453362; 18509552
Phenotypes for gene: TOPORS were set to Retinitis pigmentosa 31 (MIM#609923)
Review for gene: TOPORS was set to GREEN
Added comment: TOPORS is a ciliopathy protein localized to the base of the primary cilium (OMIM). No inheritance pattern noted in OMIM however AD appears to be consistent between 5 families currently reported.

PMID: 17924349; Chakarova 2007: Reported different het variants in 2 families. Haploinsufficiency suggested meechanism. Variants not present in gnomAD.

PMID: 28453362; Latasiewicz 2017: Het variant reported in one family.

PMID: 18509552; Bowne 2008: 2 additional adRP families reported.

Green in 'Retinal disorders' panel - PanelApp UK
Sources: Expert Review
Ciliopathies v0.165 UMOD Zornitza Stark Marked gene: UMOD as ready
Ciliopathies v0.165 UMOD Zornitza Stark Gene: umod has been classified as Green List (High Evidence).
Ciliopathies v0.165 UMOD Zornitza Stark Phenotypes for gene: UMOD were changed from to Glomerulocystic kidney disease with hyperuricemia and isosthenuria (MIM#609886); Hyperuricemic nephropathy, familial juvenile 1 (MIM#162000); Medullary cystic kidney disease 2 (MIM#603860)
Ciliopathies v0.164 UMOD Zornitza Stark Publications for gene: UMOD were set to
Ciliopathies v0.163 UMOD Zornitza Stark Mode of inheritance for gene: UMOD was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ciliopathies v0.162 BBIP1 Elena Savva edited their review of gene: BBIP1: Added comment: PMID: 24026985 - Single patient with BBS described with bi-allelic variants in this gene.

PMID: 32055034 - An additional patient with classic BBS with a homozygous splice variant confirmed by RT-PCR to result in NMD

Only one other 'pathogenic' variant in ClinVar but homozygous missense and no evidence provided.; Changed phenotypes: Bardet-Biedl Syndrome
Ciliopathies v0.162 BBIP1 Elena Savva reviewed gene: BBIP1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 24026985; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.162 TULP1 Crystle Lee gene: TULP1 was added
gene: TULP1 was added to Ciliopathies. Sources: Expert Review
Mode of inheritance for gene: TULP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TULP1 were set to 17620573; 27440997; 21987678; 15557452
Phenotypes for gene: TULP1 were set to Retinitis pigmentosa 14 M(MIM#600132)
Review for gene: TULP1 was set to GREEN
Added comment: Reported in multiple RP families.
TULP1 expressed in the retina and localizes to the inner segments and connecting cilium of photoreceptors (PMID: 17620573)

Green in 'Retinal disorders' - PanelApp UK
Sources: Expert Review
Ciliopathies v0.162 ZNF423 Crystle Lee reviewed gene: ZNF423: Rating: AMBER; Mode of pathogenicity: Other; Publications: 22863007; Phenotypes: Joubert syndrome 19 (MIM#614844); Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Ciliopathies v0.162 POC1B Crystle Lee reviewed gene: POC1B: Rating: GREEN; Mode of pathogenicity: None; Publications: 25018096, 24945461, 25044745, 29220607, 29377742; Phenotypes: Cone-rod dystrophy 20 (MIM#615973); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.162 PIK3C2A Zornitza Stark Marked gene: PIK3C2A as ready
Ciliopathies v0.162 PIK3C2A Zornitza Stark Gene: pik3c2a has been classified as Green List (High Evidence).
Ciliopathies v0.162 PIK3C2A Zornitza Stark Classified gene: PIK3C2A as Green List (high evidence)
Ciliopathies v0.162 PIK3C2A Zornitza Stark Gene: pik3c2a has been classified as Green List (High Evidence).
Ciliopathies v0.161 RPGR Crystle Lee reviewed gene: RPGR: Rating: GREEN; Mode of pathogenicity: None; Publications: 19815619, 31775781, 26093275, 30105367; Phenotypes: Retinitis pigmentosa 3 (MIM#300029); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Ciliopathies v0.161 UMOD Crystle Lee reviewed gene: UMOD: Rating: GREEN; Mode of pathogenicity: None; Publications: 20172860, 31068150; Phenotypes: Glomerulocystic kidney disease with hyperuricemia and isosthenuria (MIM#609886), Hyperuricemic nephropathy, familial juvenile 1 (MIM#162000), Medullary cystic kidney disease 2 (MIM#603860); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Ciliopathies v0.161 PIK3C2A Elena Savva gene: PIK3C2A was added
gene: PIK3C2A was added to Ciliopathies. Sources: Expert list
Mode of inheritance for gene: PIK3C2A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIK3C2A were set to PMID: 31034465
Phenotypes for gene: PIK3C2A were set to Oculoskeletodental syndrome 618440
Review for gene: PIK3C2A was set to GREEN
Added comment: Function: catalyzes the phosphorylation of the lipids that are essential for a variety of cellular processes including cilia formation and vesicle trafficking.

PMID: 31034465 - 3 unrelated families (5 patients) with cataracts, skeletal abnormalities, hearing loss, nephrocalcinosis, visual defects etc. Variants included a nonsense, canonical splice causing a large inframe deletion-insertion and intragenic CNV.
MRIs revealed multiple forntal and periventricular lacunar infarcts, lesions of white matter. No mention of MTS or cerebellar atrophy.
Functional assays on patents fibroblasts showed reduced accumulation of PI(3)P (a downstream target of this gene) at the base of cilia and reduced cilia length.
Sources: Expert list
Ciliopathies v0.161 CENPF Zornitza Stark Marked gene: CENPF as ready
Ciliopathies v0.161 CENPF Zornitza Stark Gene: cenpf has been classified as Green List (High Evidence).
Ciliopathies v0.161 CENPF Zornitza Stark Phenotypes for gene: CENPF were changed from to Stromme syndrome (MIM#243605)
Ciliopathies v0.160 CENPF Zornitza Stark Publications for gene: CENPF were set to
Ciliopathies v0.159 CENPF Zornitza Stark Mode of inheritance for gene: CENPF was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.158 EVC2 Zornitza Stark Marked gene: EVC2 as ready
Ciliopathies v0.158 EVC2 Zornitza Stark Gene: evc2 has been classified as Green List (High Evidence).
Ciliopathies v0.158 EVC2 Zornitza Stark Phenotypes for gene: EVC2 were changed from to Ellis-van Creveld syndrome (MIM#225500)
Ciliopathies v0.157 EVC2 Zornitza Stark Publications for gene: EVC2 were set to
Ciliopathies v0.156 EVC2 Zornitza Stark Mode of inheritance for gene: EVC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.155 GLI3 Zornitza Stark Marked gene: GLI3 as ready
Ciliopathies v0.155 GLI3 Zornitza Stark Gene: gli3 has been classified as Green List (High Evidence).
Ciliopathies v0.155 GLI3 Zornitza Stark Phenotypes for gene: GLI3 were changed from to Greig cephalopolysyndactyly syndrome (MIM#175700); Pallister-Hall syndrome (MIM#146510)
Ciliopathies v0.154 GLI3 Zornitza Stark Publications for gene: GLI3 were set to
Ciliopathies v0.153 GLI3 Zornitza Stark Mode of inheritance for gene: GLI3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ciliopathies v0.152 CENPF Crystle Lee reviewed gene: CENPF: Rating: GREEN; Mode of pathogenicity: None; Publications: 25564561, 28407396, 26820108; Phenotypes: Stromme syndrome (MIM#243605); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.152 EVC2 Crystle Lee reviewed gene: EVC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23220543; Phenotypes: Ellis-van Creveld syndrome (MIM#225500); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.152 GLI3 Crystle Lee reviewed gene: GLI3: Rating: GREEN; Mode of pathogenicity: None; Publications: 24736735; Phenotypes: Greig cephalopolysyndactyly syndrome (MIM#175700), Pallister-Hall syndrome (MIM#146510); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Ciliopathies v0.152 IQCE Zornitza Stark Marked gene: IQCE as ready
Ciliopathies v0.152 IQCE Zornitza Stark Gene: iqce has been classified as Green List (High Evidence).
Ciliopathies v0.152 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Ciliopathies v0.150 IQCE Bryony Thompson Classified gene: IQCE as Green List (high evidence)
Ciliopathies v0.150 IQCE Bryony Thompson Gene: iqce has been classified as Green List (High Evidence).
Ciliopathies v0.149 IQCE Bryony Thompson gene: IQCE was added
gene: IQCE was added to Ciliopathies. Sources: Literature
Mode of inheritance for gene: IQCE was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IQCE were set to 31549751; 28488682
Phenotypes for gene: IQCE were set to Postaxial polydactyly
Ciliopathies v0.147 PDE6D Zornitza Stark edited their review of gene: PDE6D: Changed rating: AMBER; Changed publications: 24166846, 30423442
Ciliopathies v0.146 TMEM107 Zornitza Stark Marked gene: TMEM107 as ready
Ciliopathies v0.146 TMEM107 Zornitza Stark Gene: tmem107 has been classified as Green List (High Evidence).
Ciliopathies v0.146 TMEM107 Zornitza Stark Phenotypes for gene: TMEM107 were changed from to Meckel syndrome 13 (MIM#617562); Orofaciodigital syndrome XVI (MIM#617563); Joubert syndrome 29 617562
Ciliopathies v0.145 TMEM107 Zornitza Stark Publications for gene: TMEM107 were set to
Ciliopathies v0.144 TMEM107 Zornitza Stark Mode of inheritance for gene: TMEM107 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.143 TMEM107 Zornitza Stark reviewed gene: TMEM107: Rating: GREEN; Mode of pathogenicity: None; Publications: 26518474, 26595381, 26123494; Phenotypes: Meckel syndrome 13 (MIM#617562), Orofaciodigital syndrome XVI (MIM#617563), Joubert syndrome 29 617562; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.143 MUC1 Zornitza Stark Marked gene: MUC1 as ready
Ciliopathies v0.143 MUC1 Zornitza Stark Added comment: Comment when marking as ready: Agree, some phenotypic overlap but not a ciliopathy and main variant type not currently readily tractable by NGS.
Ciliopathies v0.143 MUC1 Zornitza Stark Gene: muc1 has been classified as Red List (Low Evidence).
Ciliopathies v0.143 MUC1 Zornitza Stark Phenotypes for gene: MUC1 were changed from to Medullary cystic kidney disease 1 (MIM#174000)
Ciliopathies v0.142 MUC1 Zornitza Stark Publications for gene: MUC1 were set to
Ciliopathies v0.141 MUC1 Zornitza Stark Mode of inheritance for gene: MUC1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ciliopathies v0.140 MUC1 Zornitza Stark Classified gene: MUC1 as Red List (low evidence)
Ciliopathies v0.140 MUC1 Zornitza Stark Gene: muc1 has been classified as Red List (Low Evidence).
Ciliopathies v0.139 MUC1 Crystle Lee reviewed gene: MUC1: Rating: RED; Mode of pathogenicity: None; Publications: 29186029, 29156055, 29520014; Phenotypes: Medullary cystic kidney disease 1 (MIM#174000); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Ciliopathies v0.139 NODAL Zornitza Stark Tag disputed tag was added to gene: NODAL.
Ciliopathies v0.139 NODAL Zornitza Stark Mode of inheritance for gene: NODAL was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ciliopathies v0.138 NODAL Zornitza Stark Marked gene: NODAL as ready
Ciliopathies v0.138 NODAL Zornitza Stark Gene: nodal has been classified as Red List (Low Evidence).
Ciliopathies v0.138 NODAL Zornitza Stark Phenotypes for gene: NODAL were changed from to Heterotaxy, visceral, 5 (MIM#270100)
Ciliopathies v0.137 NODAL Zornitza Stark Classified gene: NODAL as Red List (low evidence)
Ciliopathies v0.137 NODAL Zornitza Stark Gene: nodal has been classified as Red List (Low Evidence).
Ciliopathies v0.136 OFD1 Zornitza Stark Marked gene: OFD1 as ready
Ciliopathies v0.136 OFD1 Zornitza Stark Gene: ofd1 has been classified as Green List (High Evidence).
Ciliopathies v0.136 NODAL Crystle Lee reviewed gene: NODAL: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Heterotaxy, visceral, 5 (MIM#270100); Mode of inheritance: None
Ciliopathies v0.136 OFD1 Zornitza Stark Phenotypes for gene: OFD1 were changed from Retinitis pigmentosa 23, MIM# 300424; Joubert syndrome 10, MIM# 300804; Orofaciodigital syndrome I, MIM# 311200 to Retinitis pigmentosa 23, MIM# 300424; Joubert syndrome 10, MIM# 300804; Orofaciodigital syndrome I, MIM# 311200
Ciliopathies v0.136 OFD1 Zornitza Stark Phenotypes for gene: OFD1 were changed from to Retinitis pigmentosa 23, MIM# 300424; Joubert syndrome 10, MIM# 300804; Orofaciodigital syndrome I, MIM# 311200
Ciliopathies v0.135 OFD1 Zornitza Stark Publications for gene: OFD1 were set to
Ciliopathies v0.134 OFD1 Zornitza Stark Mode of inheritance for gene: OFD1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Ciliopathies v0.133 OFD1 Zornitza Stark reviewed gene: OFD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32276433, 31373179; Phenotypes: Retinitis pigmentosa 23, MIM# 300424, Joubert syndrome 10, MIM# 300804, Orofaciodigital syndrome I, MIM# 311200; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Ciliopathies v0.133 ADAMTS9 Zornitza Stark Marked gene: ADAMTS9 as ready
Ciliopathies v0.133 ADAMTS9 Zornitza Stark Gene: adamts9 has been classified as Green List (High Evidence).
Ciliopathies v0.133 ADAMTS9 Zornitza Stark Classified gene: ADAMTS9 as Green List (high evidence)
Ciliopathies v0.133 ADAMTS9 Zornitza Stark Gene: adamts9 has been classified as Green List (High Evidence).
Ciliopathies v0.132 ADAMTS9 Zornitza Stark gene: ADAMTS9 was added
gene: ADAMTS9 was added to Ciliopathies. Sources: Expert list
Mode of inheritance for gene: ADAMTS9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADAMTS9 were set to 30609407
Phenotypes for gene: ADAMTS9 were set to Nephronophthisis-Related Ciliopathy
Review for gene: ADAMTS9 was set to GREEN
Added comment: Two families reported with functional evidence.
Sources: Expert list
Ciliopathies v0.131 ACVR2B Zornitza Stark Marked gene: ACVR2B as ready
Ciliopathies v0.131 ACVR2B Zornitza Stark Gene: acvr2b has been classified as Red List (Low Evidence).
Ciliopathies v0.131 GDF1 Zornitza Stark Marked gene: GDF1 as ready
Ciliopathies v0.131 GDF1 Zornitza Stark Added comment: Comment when marking as ready: Agree, this gene belongs on the Heterotaxy panel.
Ciliopathies v0.131 GDF1 Zornitza Stark Gene: gdf1 has been classified as Red List (Low Evidence).
Ciliopathies v0.131 GDF1 Zornitza Stark Phenotypes for gene: GDF1 were changed from Congenital heart defects, multiple types, 6 613854; Right atrial isomerism (Ivemark) 208530 to Congenital heart defects, multiple types, 6 613854; Right atrial isomerism (Ivemark) 208530
Ciliopathies v0.131 GDF1 Zornitza Stark Phenotypes for gene: GDF1 were changed from to Congenital heart defects, multiple types, 6 613854; Right atrial isomerism (Ivemark) 208530
Ciliopathies v0.130 GDF1 Zornitza Stark Publications for gene: GDF1 were set to
Ciliopathies v0.129 GDF1 Zornitza Stark Mode of inheritance for gene: GDF1 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Ciliopathies v0.128 GDF1 Zornitza Stark Classified gene: GDF1 as Red List (low evidence)
Ciliopathies v0.128 GDF1 Zornitza Stark Gene: gdf1 has been classified as Red List (Low Evidence).
Ciliopathies v0.127 ZIC3 Zornitza Stark Marked gene: ZIC3 as ready
Ciliopathies v0.127 ZIC3 Zornitza Stark Gene: zic3 has been classified as Red List (Low Evidence).
Ciliopathies v0.127 ZIC3 Zornitza Stark Phenotypes for gene: ZIC3 were changed from to Heterotaxy, visceral, 1, X-linked (MIM#306955)
Ciliopathies v0.126 ZIC3 Zornitza Stark Publications for gene: ZIC3 were set to
Ciliopathies v0.125 ZIC3 Zornitza Stark Mode of inheritance for gene: ZIC3 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Ciliopathies v0.124 ZIC3 Zornitza Stark Classified gene: ZIC3 as Red List (low evidence)
Ciliopathies v0.124 ZIC3 Zornitza Stark Gene: zic3 has been classified as Red List (Low Evidence).
Ciliopathies v0.123 ZIC3 Zornitza Stark reviewed gene: ZIC3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital heart defects, nonsyndromic, 1, X-linked (MIM#306955), Heterotaxy, visceral, 1, X-linked (MIM#306955); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Ciliopathies v0.123 CRELD1 Zornitza Stark Marked gene: CRELD1 as ready
Ciliopathies v0.123 CRELD1 Zornitza Stark Gene: creld1 has been classified as Red List (Low Evidence).
Ciliopathies v0.123 CRELD1 Zornitza Stark Phenotypes for gene: CRELD1 were changed from to Atrioventricular septal defect, partial, with heterotaxy syndrome 606217
Ciliopathies v0.122 CRELD1 Zornitza Stark Publications for gene: CRELD1 were set to
Ciliopathies v0.121 CRELD1 Zornitza Stark Mode of inheritance for gene: CRELD1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ciliopathies v0.120 CRELD1 Zornitza Stark Classified gene: CRELD1 as Red List (low evidence)
Ciliopathies v0.120 CRELD1 Zornitza Stark Gene: creld1 has been classified as Red List (Low Evidence).
Ciliopathies v0.119 CFC1 Zornitza Stark Marked gene: CFC1 as ready
Ciliopathies v0.119 CFC1 Zornitza Stark Gene: cfc1 has been classified as Red List (Low Evidence).
Ciliopathies v0.119 CFC1 Zornitza Stark Phenotypes for gene: CFC1 were changed from to Heterotaxy, visceral, 2, autosomal 605376
Ciliopathies v0.118 CFC1 Zornitza Stark Publications for gene: CFC1 were set to
Ciliopathies v0.117 CFC1 Zornitza Stark Mode of inheritance for gene: CFC1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ciliopathies v0.116 CFC1 Zornitza Stark Classified gene: CFC1 as Red List (low evidence)
Ciliopathies v0.116 CFC1 Zornitza Stark Gene: cfc1 has been classified as Red List (Low Evidence).
Ciliopathies v0.115 SCNN1G Zornitza Stark Marked gene: SCNN1G as ready
Ciliopathies v0.115 SCNN1G Zornitza Stark Gene: scnn1g has been classified as Red List (Low Evidence).
Ciliopathies v0.115 SCNN1G Zornitza Stark edited their review of gene: SCNN1G: Changed phenotypes: Bronchiectasis with or without elevated sweat chloride 3 (MIM#613071)
Ciliopathies v0.115 SCNN1G Zornitza Stark reviewed gene: SCNN1G: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Ciliopathies v0.115 SCNN1G Zornitza Stark Classified gene: SCNN1G as Red List (low evidence)
Ciliopathies v0.115 SCNN1G Zornitza Stark Gene: scnn1g has been classified as Red List (Low Evidence).
Ciliopathies v0.114 SCNN1G Zornitza Stark Classified gene: SCNN1G as Amber List (moderate evidence)
Ciliopathies v0.114 SCNN1G Zornitza Stark Gene: scnn1g has been classified as Amber List (Moderate Evidence).
Ciliopathies v0.113 PMM2 Zornitza Stark Marked gene: PMM2 as ready
Ciliopathies v0.113 PMM2 Zornitza Stark Gene: pmm2 has been classified as Red List (Low Evidence).
Ciliopathies v0.113 PMM2 Zornitza Stark Classified gene: PMM2 as Red List (low evidence)
Ciliopathies v0.113 PMM2 Zornitza Stark Gene: pmm2 has been classified as Red List (Low Evidence).
Ciliopathies v0.112 PMM2 Zornitza Stark reviewed gene: PMM2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of glycosylation, type Ia (MIM#212065); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.112 PRKCSH Zornitza Stark Marked gene: PRKCSH as ready
Ciliopathies v0.112 PRKCSH Zornitza Stark Added comment: Comment when marking as ready: Potential phenotypic overlap with ciliopathies.
Ciliopathies v0.112 PRKCSH Zornitza Stark Gene: prkcsh has been classified as Amber List (Moderate Evidence).
Ciliopathies v0.112 PRKCSH Zornitza Stark Phenotypes for gene: PRKCSH were changed from to Polycystic liver disease 1 (MIM#174050)
Ciliopathies v0.111 PRKCSH Zornitza Stark Publications for gene: PRKCSH were set to 19876928
Ciliopathies v0.111 PRKCSH Zornitza Stark Publications for gene: PRKCSH were set to 19876928
Ciliopathies v0.111 PRKCSH Zornitza Stark Publications for gene: PRKCSH were set to
Ciliopathies v0.110 PRKCSH Zornitza Stark Mode of pathogenicity for gene: PRKCSH was changed from to Other
Ciliopathies v0.109 PRKCSH Zornitza Stark Mode of inheritance for gene: PRKCSH was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ciliopathies v0.108 PRKCSH Zornitza Stark Classified gene: PRKCSH as Amber List (moderate evidence)
Ciliopathies v0.108 PRKCSH Zornitza Stark Gene: prkcsh has been classified as Amber List (Moderate Evidence).
Ciliopathies v0.107 CFAP53 Zornitza Stark Marked gene: CFAP53 as ready
Ciliopathies v0.107 CFAP53 Zornitza Stark Gene: cfap53 has been classified as Red List (Low Evidence).
Ciliopathies v0.107 CFAP53 Zornitza Stark Phenotypes for gene: CFAP53 were changed from to Heterotaxy, visceral, 6, autosomal recessive 614779
Ciliopathies v0.106 CFAP53 Zornitza Stark Publications for gene: CFAP53 were set to
Ciliopathies v0.105 CFAP53 Zornitza Stark Mode of inheritance for gene: CFAP53 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.104 CFAP53 Zornitza Stark Classified gene: CFAP53 as Red List (low evidence)
Ciliopathies v0.104 CFAP53 Zornitza Stark Gene: cfap53 has been classified as Red List (Low Evidence).
Ciliopathies v0.103 GDF1 Elena Savva reviewed gene: GDF1: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 32144877; Phenotypes: Congenital heart defects, multiple types, 6 613854, Right atrial isomerism (Ivemark) 208530; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Ciliopathies v0.103 ZIC3 Crystle Lee reviewed gene: ZIC3: Rating: GREEN; Mode of pathogenicity: None; Publications: 27406248, 20452998; Phenotypes: Congenital heart defects, nonsyndromic, 1, X-linked (MIM#306955), Heterotaxy, visceral, 1, X-linked (MIM#306955); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Ciliopathies v0.103 CRELD1 Elena Savva reviewed gene: CRELD1: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 22740159; Phenotypes: {Atrioventricular septal defect, susceptibility to, 2} 606217, Atrioventricular septal defect, partial, with heterotaxy syndrome 606217; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Ciliopathies v0.103 CFC1 Elena Savva reviewed gene: CFC1: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 31633655, 18162845, 25423076, 11062482; Phenotypes: Heterotaxy, visceral, 2, autosomal 605376; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Ciliopathies v0.103 SCNN1G Crystle Lee gene: SCNN1G was added
gene: SCNN1G was added to Ciliopathies. Sources: Expert Review
Mode of inheritance for gene: SCNN1G was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SCNN1G were set to 22207244; 31655555; 30801930; 28484659
Phenotypes for gene: SCNN1G were set to Bronchiectasis with or without elevated sweat chloride 3 (MIM#613071); Liddle syndrome 2 (MIM#618114); Pseudohypoaldosteronism, type I (MIM#264350)
Review for gene: SCNN1G was set to AMBER
Added comment: Encodes for the gamma subunit of the epithelial sodium channel, which is distributed along the motile cilia. (PMID: 22207244). Respiratory problems is a feature of pseudohypoaldosteronism Type I. Minimal reports to date.

Kozina 2019; PMID: 31655555: Reported one family and reviewed 6 other families with het truncating variants in SCNN1G causing Liddle syndrome. Unsure if features resemble ciliopathies

Bush 2019; PMID: 30801930; ENaC mutations, especially in-trans with a CFTR mutation, are thought to be risk factors for bronchiectasis, rather than actually causative

Nur 2017; PMID: 28484659; Review of PHA1. 2 patients reported with biallelic LoF type variants in SCNN1G.
Sources: Expert Review
Ciliopathies v0.103 PMM2 Crystle Lee gene: PMM2 was added
gene: PMM2 was added to Ciliopathies. Sources: Expert Review
Mode of inheritance for gene: PMM2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PMM2 were set to 28108845
Phenotypes for gene: PMM2 were set to Congenital disorder of glycosylation, type Ia (MIM#212065)
Review for gene: PMM2 was set to AMBER
Added comment: Encodes for phosphomannomutase 2 required for glycosylation. Not a ciliopathy gene however CDG has many overlapping features with ciliopathy. Left as Amber.

PMID: 28108845: Review article. Well reported gene causing CDG. >700 patients reported

PMID: 25497157; Many patients reported. Similar features as ciliopathies
Sources: Expert Review
Ciliopathies v0.103 PRKCSH Crystle Lee reviewed gene: PRKCSH: Rating: AMBER; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 19876928; Phenotypes: Polycystic liver disease 1 (MIM#174050); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Ciliopathies v0.103 CFAP53 Elena Savva reviewed gene: CFAP53: Rating: RED; Mode of pathogenicity: None; Publications: PMID:28621423, 22577226, 26531781; Phenotypes: Heterotaxy, visceral, 6, autosomal recessive 614779; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.103 SEC63 Zornitza Stark Marked gene: SEC63 as ready
Ciliopathies v0.103 SEC63 Zornitza Stark Added comment: Comment when marking as ready: Agree, not a ciliopathy. Retain as Amber due to phenotypic overlap.
Ciliopathies v0.103 SEC63 Zornitza Stark Gene: sec63 has been classified as Amber List (Moderate Evidence).
Ciliopathies v0.103 SEC63 Zornitza Stark Phenotypes for gene: SEC63 were changed from to Polycystic liver disease 2 (MIM#617004)
Ciliopathies v0.102 SEC63 Zornitza Stark Publications for gene: SEC63 were set to
Ciliopathies v0.101 SEC63 Zornitza Stark Mode of inheritance for gene: SEC63 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ciliopathies v0.100 SEC63 Zornitza Stark Classified gene: SEC63 as Amber List (moderate evidence)
Ciliopathies v0.100 SEC63 Zornitza Stark Gene: sec63 has been classified as Amber List (Moderate Evidence).
Ciliopathies v0.99 CEP55 Zornitza Stark Marked gene: CEP55 as ready
Ciliopathies v0.99 CEP55 Zornitza Stark Gene: cep55 has been classified as Amber List (Moderate Evidence).
Ciliopathies v0.99 CEP55 Zornitza Stark Phenotypes for gene: CEP55 were changed from to Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly, MIM# 236500
Ciliopathies v0.98 CEP55 Zornitza Stark Publications for gene: CEP55 were set to
Ciliopathies v0.97 CEP55 Zornitza Stark Mode of inheritance for gene: CEP55 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.96 CEP55 Zornitza Stark Classified gene: CEP55 as Amber List (moderate evidence)
Ciliopathies v0.96 CEP55 Zornitza Stark Gene: cep55 has been classified as Amber List (Moderate Evidence).
Ciliopathies v0.95 TAPT1 Zornitza Stark Phenotypes for gene: TAPT1 were changed from Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type (MIM#616897) to Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type (MIM#616897)
Ciliopathies v0.95 TAPT1 Zornitza Stark Marked gene: TAPT1 as ready
Ciliopathies v0.95 TAPT1 Zornitza Stark Gene: tapt1 has been classified as Amber List (Moderate Evidence).
Ciliopathies v0.95 TAPT1 Zornitza Stark Phenotypes for gene: TAPT1 were changed from to Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type (MIM#616897)
Ciliopathies v0.94 TAPT1 Zornitza Stark Publications for gene: TAPT1 were set to
Ciliopathies v0.93 TAPT1 Zornitza Stark Mode of inheritance for gene: TAPT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.92 TAPT1 Zornitza Stark Classified gene: TAPT1 as Amber List (moderate evidence)
Ciliopathies v0.92 TAPT1 Zornitza Stark Gene: tapt1 has been classified as Amber List (Moderate Evidence).
Ciliopathies v0.91 CCDC28B Zornitza Stark Phenotypes for gene: CCDC28B were changed from {Bardet-Biedl syndrome 1, modifier of}, MIM#209900 to {Bardet-Biedl syndrome 1, modifier of}, MIM#209900; Joubert syndrome
Ciliopathies v0.90 CCDC28B Zornitza Stark Publications for gene: CCDC28B were set to 32139166
Ciliopathies v0.90 CCDC28B Zornitza Stark Publications for gene: CCDC28B were set to
Ciliopathies v0.89 CCDC28B Zornitza Stark Classified gene: CCDC28B as Amber List (moderate evidence)
Ciliopathies v0.89 CCDC28B Zornitza Stark Gene: ccdc28b has been classified as Amber List (Moderate Evidence).
Ciliopathies v0.88 VPS13B Zornitza Stark Marked gene: VPS13B as ready
Ciliopathies v0.88 VPS13B Zornitza Stark Added comment: Comment when marking as ready: Agree retinopathy, obesity and ID overlap significantly with typical phenotypic features of ciliopathies, therefore reasonable to include in this panel even though not strictly a ciliopathy.
Ciliopathies v0.88 VPS13B Zornitza Stark Gene: vps13b has been classified as Amber List (Moderate Evidence).
Ciliopathies v0.88 VPS13B Zornitza Stark Classified gene: VPS13B as Amber List (moderate evidence)
Ciliopathies v0.88 VPS13B Zornitza Stark Gene: vps13b has been classified as Amber List (Moderate Evidence).
Ciliopathies v0.87 ARMC9 Zornitza Stark Marked gene: ARMC9 as ready
Ciliopathies v0.87 ARMC9 Zornitza Stark Gene: armc9 has been classified as Green List (High Evidence).
Ciliopathies v0.87 ARMC9 Zornitza Stark Classified gene: ARMC9 as Green List (high evidence)
Ciliopathies v0.87 ARMC9 Zornitza Stark Gene: armc9 has been classified as Green List (High Evidence).
Ciliopathies v0.86 ARMC8 Zornitza Stark Marked gene: ARMC8 as ready
Ciliopathies v0.86 ARMC8 Zornitza Stark Gene: armc8 has been classified as Red List (Low Evidence).
Ciliopathies v0.86 ARMC8 Zornitza Stark Classified gene: ARMC8 as Red List (low evidence)
Ciliopathies v0.86 ARMC8 Zornitza Stark Gene: armc8 has been classified as Red List (Low Evidence).
Ciliopathies v0.85 ZSWIM6 Zornitza Stark Phenotypes for gene: ZSWIM6 were changed from Acromelic frontonasal dysostosis (MIM#603671) to Acromelic frontonasal dysostosis (MIM#603671); Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features, MIM# 617865
Ciliopathies v0.84 ZSWIM6 Zornitza Stark Marked gene: ZSWIM6 as ready
Ciliopathies v0.84 ZSWIM6 Zornitza Stark Added comment: Comment when marking as ready: Agree, link to cilia not well established.
Ciliopathies v0.84 ZSWIM6 Zornitza Stark Gene: zswim6 has been classified as Amber List (Moderate Evidence).
Ciliopathies v0.84 ZSWIM6 Zornitza Stark Classified gene: ZSWIM6 as Amber List (moderate evidence)
Ciliopathies v0.84 ZSWIM6 Zornitza Stark Gene: zswim6 has been classified as Amber List (Moderate Evidence).
Ciliopathies v0.83 ACVR2B Zornitza Stark Phenotypes for gene: ACVR2B were changed from to Heterotaxy, visceral, 4, autosomal 613751
Ciliopathies v0.82 ACVR2B Zornitza Stark Publications for gene: ACVR2B were set to 9916847; 30622330; 21864452
Ciliopathies v0.82 ACVR2B Zornitza Stark Tag disputed tag was added to gene: ACVR2B.
Ciliopathies v0.82 ACVR2B Zornitza Stark Publications for gene: ACVR2B were set to
Ciliopathies v0.81 ACVR2B Zornitza Stark Mode of inheritance for gene: ACVR2B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ciliopathies v0.80 ACVR2B Zornitza Stark Classified gene: ACVR2B as Red List (low evidence)
Ciliopathies v0.80 ACVR2B Zornitza Stark Gene: acvr2b has been classified as Red List (Low Evidence).
Ciliopathies v0.79 WDR81 Zornitza Stark Marked gene: WDR81 as ready
Ciliopathies v0.79 WDR81 Zornitza Stark Gene: wdr81 has been classified as Red List (Low Evidence).
Ciliopathies v0.79 WDR81 Zornitza Stark Classified gene: WDR81 as Red List (low evidence)
Ciliopathies v0.79 WDR81 Zornitza Stark Gene: wdr81 has been classified as Red List (Low Evidence).
Ciliopathies v0.78 SEC63 Crystle Lee reviewed gene: SEC63: Rating: AMBER; Mode of pathogenicity: None; Publications: 15133510, 19876928; Phenotypes: Polycystic liver disease 2 (MIM#617004); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Ciliopathies v0.78 CEP55 Elena Savva reviewed gene: CEP55: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 28264986, 28295209, 32100459; Phenotypes: Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 236500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.78 CEP55 Elena Savva Deleted their review
Ciliopathies v0.78 CEP55 Elena Savva reviewed gene: CEP55: Rating: ; Mode of pathogenicity: None; Publications: PMID: 28264986; Phenotypes: Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 236500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.78 TAPT1 Crystle Lee changed review comment from: 2 families reported with function studies showing absent or abnormal primary cillia formation.

PMID: 26365339; Reported 2 consang fam (1 splice and 1 missense) with Complex Lethal Osteochondrodysplasia. Functional studies showed abnormal ciliogenesis. Tapt1b deficient zebrafish showed decreased cilial length; to: 2 families reported with function studies showing absent or abnormal primary cillia formation. Amber/Green pending additional reports

PMID: 26365339; Reported 2 consang fam (1 splice and 1 missense) with Complex Lethal Osteochondrodysplasia. Functional studies showed abnormal ciliogenesis. Tapt1b deficient zebrafish showed decreased cilial length
Ciliopathies v0.78 TAPT1 Crystle Lee reviewed gene: TAPT1: Rating: AMBER; Mode of pathogenicity: None; Publications: 26365339; Phenotypes: Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type (MIM#616897); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.78 CCDC28B Elena Savva reviewed gene: CCDC28B: Rating: AMBER; Mode of pathogenicity: Other; Publications: PMID: 32139166; Phenotypes: {Bardet-Biedl syndrome 1, modifier of} 209900, Joubert syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.78 VPS13B Crystle Lee gene: VPS13B was added
gene: VPS13B was added to Ciliopathies. Sources: Expert Review
Mode of inheritance for gene: VPS13B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VPS13B were set to Cohen syndrome (MIM# 216550)
Review for gene: VPS13B was set to AMBER
Added comment: Well reported to cause Cohen syndrome, however, protein forms part of the golgi apparatus and plays an important role in glycosylation. Unsure if ciliopathy?

PanelApp UK: Was confirmed with the Clinical Team that this gene should be green on this panel.
Sources: Expert Review
Ciliopathies v0.78 ARMC9 Elena Savva gene: ARMC9 was added
gene: ARMC9 was added to Ciliopathies. Sources: Expert list
Mode of inheritance for gene: ARMC9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARMC9 were set to PMID: 28625504
Phenotypes for gene: ARMC9 were set to Joubert syndrome 30 617622 AR
Review for gene: ARMC9 was set to GREEN
Added comment: OMIM: ARMC9 localizes to the ciliary basal body and daughter centriole and is predicted to function in ciliogenesis

PMID: 28625504 - 8 families with Joubert syndrome, all variant types detected. Functional studies show protein localizes at the basal body and upregulates during ciliogenesis. Zebrafish with frameshift mutation recapitulated the human phenotype including a curved body, coloboma, retinal dystrophy and less cilia.
Sources: Expert list
Ciliopathies v0.78 ARMC8 Elena Savva reviewed gene: ARMC8: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Ciliopathies v0.78 ZSWIM6 Crystle Lee gene: ZSWIM6 was added
gene: ZSWIM6 was added to Ciliopathies. Sources: Expert Review
Mode of inheritance for gene: ZSWIM6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ZSWIM6 were set to 25105228; 28213462; 29198722
Phenotypes for gene: ZSWIM6 were set to Acromelic frontonasal dysostosis (MIM#603671)
Mode of pathogenicity for gene: ZSWIM6 was set to Other
Review for gene: ZSWIM6 was set to AMBER
Added comment: Minimal reports to date. Acromelic frontonasal dysostosis considered as likely ciliopathy in one paper.

PMID: 25105228: 4 pts with AFND (Arg1163Trp)

PMID: 28213462; AFND caused by this gene was classified as "Likely ciliopathy"

PMID: 29198722; Reported 7 unrelated individuals with a recurrent truncating variant. This patients were "Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features". No functional studies performed but postulated to be dominant-negative.

Rated green in PanelApp UK - Rare multisystem ciliopathy disorders list
Sources: Expert Review
Ciliopathies v0.78 ACVR2B Elena Savva reviewed gene: ACVR2B: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 9916847, 30622330, 21864452; Phenotypes: Heterotaxy, visceral, 4, autosomal 613751; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Ciliopathies v0.78 WDR81 Elena Savva gene: WDR81 was added
gene: WDR81 was added to Ciliopathies. Sources: Expert list
Mode of inheritance for gene: WDR81 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WDR81 were set to PMID: 28556411; 21885617
Phenotypes for gene: WDR81 were set to Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 610185; Hydrocephalus, congenital, 3, with brain anomalies 617967
Review for gene: WDR81 was set to RED
Added comment: No mention of ciliary involvement in OMIM

PMID: 28556411 - 2 families with congenital hydrocephalus, families were homozygous for a PTC and missense

PMID: 21885617 - 1 super giant family with a homozygous missense. Authors describe the protein as transmembrane protein where the WD repeats support of beta propeller component. Mouse model also described, no mention of a Joubert-type phenotype
Sources: Expert list
Ciliopathies v0.78 SCAPER Zornitza Stark Classified gene: SCAPER as Green List (high evidence)
Ciliopathies v0.78 SCAPER Zornitza Stark Gene: scaper has been classified as Green List (High Evidence).
Ciliopathies v0.78 SCAPER Zornitza Stark Marked gene: SCAPER as ready
Ciliopathies v0.78 SCAPER Zornitza Stark Gene: scaper has been classified as Green List (High Evidence).
Ciliopathies v0.78 SCAPER Zornitza Stark Classified gene: SCAPER as Green List (high evidence)
Ciliopathies v0.78 SCAPER Zornitza Stark Gene: scaper has been classified as Green List (High Evidence).
Ciliopathies v0.77 SCAPER Zornitza Stark Classified gene: SCAPER as Green List (high evidence)
Ciliopathies v0.77 SCAPER Zornitza Stark Gene: scaper has been classified as Green List (High Evidence).
Ciliopathies v0.77 Zornitza Stark removed gene:NID1 from the panel
Ciliopathies v0.76 Zornitza Stark removed gene:VLDLR from the panel
Ciliopathies v0.76 Zornitza Stark removed gene:WNT1 from the panel
Ciliopathies v0.76 Zornitza Stark removed gene:ZIC1 from the panel
Ciliopathies v0.75 ICK Zornitza Stark Marked gene: ICK as ready
Ciliopathies v0.75 ICK Zornitza Stark Gene: ick has been classified as Green List (High Evidence).
Ciliopathies v0.75 ICK Zornitza Stark Classified gene: ICK as Green List (high evidence)
Ciliopathies v0.75 ICK Zornitza Stark Gene: ick has been classified as Green List (High Evidence).
Ciliopathies v0.74 PIBF1 Zornitza Stark Marked gene: PIBF1 as ready
Ciliopathies v0.74 PIBF1 Zornitza Stark Gene: pibf1 has been classified as Green List (High Evidence).
Ciliopathies v0.74 PIBF1 Zornitza Stark Classified gene: PIBF1 as Green List (high evidence)
Ciliopathies v0.74 PIBF1 Zornitza Stark Gene: pibf1 has been classified as Green List (High Evidence).
Ciliopathies v0.73 WNT1 Crystle Lee gene: WNT1 was added
gene: WNT1 was added to Ciliopathies. Sources: Expert Review
Mode of inheritance for gene: WNT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WNT1 were set to 26671912; 23499309; 23434763
Phenotypes for gene: WNT1 were set to Osteogenesis imperfecta, type XV (MIM#615220)
Added comment: WNT1 causes AR OI, brain (cerebellar) malformations not a consistent feature.

PMID: 26671912; Reviewed clinical and brain imaging of 6 patients from 4 families (2 unrelated Hmong fams with same variant, likely founder). Cerebellar hypoplasia in 5 of 6 patients with varied severity. Cerebellar abnormalities inconsistent between the 3 Hmong patients with same variant.

PMID: 23499309; Reported hom variants in 5 consang fams with autosomal-recessive OI. Ataxia, other signs of
cerebellar dysfunction not a key feature, only one patient showed brain malformations.

PMID: 23434763; Reported 3 families with OI, no brain malformations described.
Sources: Expert Review
Ciliopathies v0.73 VLDLR Elena Savva gene: VLDLR was added
gene: VLDLR was added to Ciliopathies. Sources: Expert list
Mode of inheritance for gene: VLDLR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VLDLR were set to PMID: 16080122; 18326629; 10380922
Phenotypes for gene: VLDLR were set to Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1 224050
Review for gene: VLDLR was set to GREEN
Added comment: VLDLR guides neuroblast migration in the cerebral cortex and cerebellum (PMID: 16080122).

PMID: 16080122 - Whole gene homozygous deletion affecting 8 patients in 3 related Hutterite families. The deletion extended in neighbouring LOC401491 (no known function)
Patients displayed symptoms including delayed ambulation, truncal ataxia, strabismus and pes planus in the majority of patients, seizures in 40% of patients, and short stature in 15% of patients. Magnetic resonance imaging (MRI) demonstrates inferior cerebellar hypoplasia and mild cortical gyral simplification.

PMID: 18326629 - Two families with homozygous PTCs. Patients had impaired cerebrocerebellar function including cerebrocerebellar hypoplasia, vermial hypoplasia, and gait.

PMID: 10380922 - Mouse models are neurologically normal. Knockout mice show malformation of neuronal layers, Purkinje cell assemble incorrectly, there are inverted cortical layers

Summary: 3 independant families + animal studies
Sources: Expert list
Ciliopathies v0.73 ZIC1 Crystle Lee gene: ZIC1 was added
gene: ZIC1 was added to Ciliopathies. Sources: Expert Review
Mode of inheritance for gene: ZIC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ZIC1 were set to 26340333; 9412507; 14981711
Phenotypes for gene: ZIC1 were set to Structural brain anomalies with impaired intellectual development and craniosynostosis (MIM#618736)
Mode of pathogenicity for gene: ZIC1 was set to Other
Review for gene: ZIC1 was set to AMBER
Added comment: Single paper from 2015 with reports of variants in ZIC1 - unsure if JS phenotype? Amber/Red

PMID: 26340333; Reported 5 families with coronal craniosynotosis and learning disabilities with inconsistent brain abnormalities (1 pt with abnormalities of the cerebellum and pons). 4 nonsense and 1 missense reported to cause disease through GoF mechanism

PMID: 9412507; Zic1 deficient mice presented with ataxia and cerebellar hypoplasia (1998)

PMID: 14981711; This 2004 paper acknowledges that null mice shows JS phenotype, but excluded ZIC1 as causative gene because no pathogenic variants found in cohort of 47 JS patients
Sources: Expert Review
Ciliopathies v0.73 PIBF1 Elena Savva gene: PIBF1 was added
gene: PIBF1 was added to Ciliopathies. Sources: Expert Review
Mode of inheritance for gene: PIBF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIBF1 were set to PMID:26167768; 30858804; 29695797
Phenotypes for gene: PIBF1 were set to Joubert syndrome 33, OMIM #617767
Review for gene: PIBF1 was set to GREEN
Added comment: 7 families altogether: 3 of these are Hutterite and share the same founder variant.
Sources: Expert list
Sources: Expert Review
Ciliopathies v0.73 NID1 Elena Savva gene: NID1 was added
gene: NID1 was added to Ciliopathies. Sources: Expert Review
Mode of inheritance for gene: NID1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: NID1 were set to PMID: 23674478; 25558065; 12480912; 30773799
Phenotypes for gene: NID1 were set to Dandy-Walker malformation and occipital cephalocele; Hydrocephalus with or without seizures
Added comment: no OMIM disease association

PMID: 23674478 - single Vietnamese family (14 affecteds) with Dandy-Walker variant/cerebellar vermal hypoplasia ± cephalocele had a heterozygous nonsense. Normal eye examination.

PMID: 25558065 - reports 2 sibs with hydrocephalus with a heterozygous splice variant resulting in an inframe insertion (confirmed by RT-PCR). Brother shows additional phenotypes of seizures and focal epilepsy.

PMID: 12480912 - mouse model with neurological deficits including seizure-like symptoms, altered basement membrane morphology in brain capillaries and the lens capsule.

PMID: 30773799 - 1 family Dandy-Walker malformation and occipital cephalocele with the nonsense from PMID: 23674478. Familial variation, affecteds lack cerebellar involvement

Summary: 3 families & animal model - hard to tell if the phenotype is related
Sources: Expert Review
Ciliopathies v0.73 ICK Crystle Lee gene: ICK was added
gene: ICK was added to Ciliopathies. Sources: Expert Review
Mode of inheritance for gene: ICK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ICK were set to 19185282; 27069622; 27466187; 24797473; 24853502
Phenotypes for gene: ICK were set to Endocrine-cerebroosteodysplasia (MIM#612651)
Review for gene: ICK was set to GREEN
Added comment: 3 families reported, functional studies and animal models.

PMID: 19185282; 6 affected from 2 Amish families with endocrine-cerebro-osteodysplasia (ECO)

PMID: 27069622; A different variant reported in a Turkish fetus presenting with ECO and overlapping features of ciliopathies. Functional studies showed abnormal ciliary localization.

PMID: 27466187; Additional variant identified in a patient with short rib polydactyly syndromes (SRPS). Functional studies showed that the variant caused ciliary defects

PMID: 24797473; Ick deficient mice showed ciliary defects. Authors concluded that ICK is required for normal ciliogenesis

PMID: 24853502; Ick knockout mice recapitulates clinical symptoms of ECO. Defects in ICK caused aberrant ciliogenesis
Sources: Expert Review
Ciliopathies v0.73 SCAPER Elena Savva gene: SCAPER was added
gene: SCAPER was added to Ciliopathies. Sources: Expert Review
Mode of inheritance for gene: SCAPER was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SCAPER were set to PMID:30723319; 28794130; 31069901; 31192531; 30723319
Phenotypes for gene: SCAPER were set to Intellectual developmental disorder and retinitis pigmentosa, OMIM #618195; Bardet-Biedl syndrome
Review for gene: SCAPER was set to GREEN
Added comment: Two distantly related consanguineous families reported plus note some of the individuals in the preceding papers had a BBS phenotype. Functional data to associate SCAPER with ciliary dynamics and disassembly.
Sources: Literature
Sources: Expert Review
Ciliopathies v0.73 IFT74 Zornitza Stark Classified gene: IFT74 as Green List (high evidence)
Ciliopathies v0.73 IFT74 Zornitza Stark Gene: ift74 has been classified as Green List (High Evidence).
Ciliopathies v0.72 IFT74 Zornitza Stark edited their review of gene: IFT74: Added comment: Second individual with bi-allelic variants reported.; Changed rating: GREEN; Changed publications: 27486776, 32144365
Ciliopathies v0.72 SUFU Zornitza Stark Marked gene: SUFU as ready
Ciliopathies v0.72 SUFU Zornitza Stark Gene: sufu has been classified as Amber List (Moderate Evidence).
Ciliopathies v0.72 SUFU Zornitza Stark Phenotypes for gene: SUFU were changed from to Joubert syndrome 32, MIM#617757
Ciliopathies v0.71 SUFU Zornitza Stark Publications for gene: SUFU were set to
Ciliopathies v0.70 SUFU Zornitza Stark Mode of inheritance for gene: SUFU was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.69 SUFU Zornitza Stark Classified gene: SUFU as Amber List (moderate evidence)
Ciliopathies v0.69 SUFU Zornitza Stark Gene: sufu has been classified as Amber List (Moderate Evidence).
Ciliopathies v0.68 SUFU Zornitza Stark reviewed gene: SUFU: Rating: AMBER; Mode of pathogenicity: None; Publications: 28965847; Phenotypes: Joubert syndrome 32, MIM#617757; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.68 CC2D2A Zornitza Stark Marked gene: CC2D2A as ready
Ciliopathies v0.68 CC2D2A Zornitza Stark Gene: cc2d2a has been classified as Green List (High Evidence).
Ciliopathies v0.68 CC2D2A Zornitza Stark Phenotypes for gene: CC2D2A were changed from to COACH syndrome, 216360; Joubert syndrome 9, 612285; Meckel syndrome 6, 612284
Ciliopathies v0.67 CC2D2A Zornitza Stark Publications for gene: CC2D2A were set to
Ciliopathies v0.66 CC2D2A Zornitza Stark Mode of inheritance for gene: CC2D2A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.65 CC2D2A Kristin Rigbye reviewed gene: CC2D2A: Rating: GREEN; Mode of pathogenicity: None; Publications: 22241855, 27081510; Phenotypes: COACH syndrome, 216360, Joubert syndrome 9, 612285, Meckel syndrome 6, 612284; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Ciliopathies v0.65 FAM149B1 Alison Yeung Marked gene: FAM149B1 as ready
Ciliopathies v0.65 FAM149B1 Alison Yeung Gene: fam149b1 has been classified as Green List (High Evidence).
Ciliopathies v0.65 FAM149B1 Alison Yeung Classified gene: FAM149B1 as Green List (high evidence)
Ciliopathies v0.65 FAM149B1 Alison Yeung Gene: fam149b1 has been classified as Green List (High Evidence).
Ciliopathies v0.64 FAM149B1 Alison Yeung Classified gene: FAM149B1 as Green List (high evidence)
Ciliopathies v0.64 FAM149B1 Alison Yeung Gene: fam149b1 has been classified as Green List (High Evidence).
Ciliopathies v0.64 FAM149B1 Alison Yeung Classified gene: FAM149B1 as Green List (high evidence)
Ciliopathies v0.64 FAM149B1 Alison Yeung Gene: fam149b1 has been classified as Green List (High Evidence).
Ciliopathies v0.63 FAM149B1 Alison Yeung gene: FAM149B1 was added
gene: FAM149B1 was added to Ciliopathies. Sources: Literature
Mode of inheritance for gene: FAM149B1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FAM149B1 were set to PMID: 30905400
Phenotypes for gene: FAM149B1 were set to Joubert; Ciliopathy
Review for gene: FAM149B1 was set to GREEN
gene: FAM149B1 was marked as current diagnostic
Added comment: Four unrelated families reported
Sources: Literature
Ciliopathies v0.62 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Ciliopathies v0.61 Zornitza Stark Panel name changed from Ciliopathies_VCGS to Ciliopathies
Panel types changed to Victorian Clinical Genetics Services
Ciliopathies v0.60 IFT74 Zornitza Stark Marked gene: IFT74 as ready
Ciliopathies v0.60 IFT74 Zornitza Stark Gene: ift74 has been classified as Amber List (Moderate Evidence).
Ciliopathies v0.60 IFT74 Zornitza Stark Classified gene: IFT74 as Amber List (moderate evidence)
Ciliopathies v0.60 IFT74 Zornitza Stark Gene: ift74 has been classified as Amber List (Moderate Evidence).
Ciliopathies v0.59 IFT74 Zornitza Stark gene: IFT74 was added
gene: IFT74 was added to Ciliopathies_VCGS. Sources: Expert list
Mode of inheritance for gene: IFT74 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IFT74 were set to 27486776
Phenotypes for gene: IFT74 were set to Bardet-Biedl syndrome 20, MIM# 617119
Review for gene: IFT74 was set to AMBER
Added comment: Single family plus functional data.
Sources: Expert list
Ciliopathies v0.58 C8orf37 Zornitza Stark Marked gene: C8orf37 as ready
Ciliopathies v0.58 C8orf37 Zornitza Stark Gene: c8orf37 has been classified as Green List (High Evidence).
Ciliopathies v0.58 C8orf37 Zornitza Stark Classified gene: C8orf37 as Green List (high evidence)
Ciliopathies v0.58 C8orf37 Zornitza Stark Gene: c8orf37 has been classified as Green List (High Evidence).
Ciliopathies v0.57 C8orf37 Zornitza Stark gene: C8orf37 was added
gene: C8orf37 was added to Ciliopathies_VCGS. Sources: Expert list
Mode of inheritance for gene: C8orf37 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C8orf37 were set to 27008867; 26854863; 22177090; 25113443; 26865426; 25802487
Phenotypes for gene: C8orf37 were set to Bardet-Biedl syndrome 21, MIM#617406; Retinitis pigmentosa 64, MIM#614500
Review for gene: C8orf37 was set to GREEN
Added comment: Two individuals reported with BBS phenotype; at least 7 families with retinal ciliopathy (RP, cone-rod dystrophy)
Sources: Expert list
Ciliopathies v0.56 BBIP1 Zornitza Stark Marked gene: BBIP1 as ready
Ciliopathies v0.56 BBIP1 Zornitza Stark Gene: bbip1 has been classified as Amber List (Moderate Evidence).
Ciliopathies v0.56 BBIP1 Zornitza Stark Classified gene: BBIP1 as Amber List (moderate evidence)
Ciliopathies v0.56 BBIP1 Zornitza Stark Gene: bbip1 has been classified as Amber List (Moderate Evidence).
Ciliopathies v0.55 BBIP1 Zornitza Stark gene: BBIP1 was added
gene: BBIP1 was added to Ciliopathies_VCGS. Sources: Expert list
Mode of inheritance for gene: BBIP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BBIP1 were set to 24026985
Phenotypes for gene: BBIP1 were set to Bardet-Biedl syndrome 18, MIM#615995
Review for gene: BBIP1 was set to AMBER
Added comment: Single patient described with bi-allelic variants in this gene. Only one other 'pathogenic' variant in ClinVar but homozygous missense and no evidence provided.
Sources: Expert list
Ciliopathies v0.54 ALMS1 Zornitza Stark Marked gene: ALMS1 as ready
Ciliopathies v0.54 ALMS1 Zornitza Stark Gene: alms1 has been classified as Green List (High Evidence).
Ciliopathies v0.54 ALMS1 Zornitza Stark Phenotypes for gene: ALMS1 were changed from to Alstrom syndrome, MIM# 203800
Ciliopathies v0.53 ALMS1 Zornitza Stark Mode of inheritance for gene: ALMS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.52 WDPCP Zornitza Stark Marked gene: WDPCP as ready
Ciliopathies v0.52 WDPCP Zornitza Stark Gene: wdpcp has been classified as Amber List (Moderate Evidence).
Ciliopathies v0.52 WDPCP Zornitza Stark Phenotypes for gene: WDPCP were changed from to Bardet-Biedl syndrome 15, MIM# 615992
Ciliopathies v0.51 WDPCP Zornitza Stark Publications for gene: WDPCP were set to
Ciliopathies v0.50 WDPCP Zornitza Stark Mode of inheritance for gene: WDPCP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.49 WDPCP Zornitza Stark Classified gene: WDPCP as Amber List (moderate evidence)
Ciliopathies v0.49 WDPCP Zornitza Stark Gene: wdpcp has been classified as Amber List (Moderate Evidence).
Ciliopathies v0.48 IFT27 Zornitza Stark Marked gene: IFT27 as ready
Ciliopathies v0.48 IFT27 Zornitza Stark Gene: ift27 has been classified as Green List (High Evidence).
Ciliopathies v0.48 IFT27 Zornitza Stark Classified gene: IFT27 as Green List (high evidence)
Ciliopathies v0.48 IFT27 Zornitza Stark Gene: ift27 has been classified as Green List (High Evidence).
Ciliopathies v0.47 IFT27 Zornitza Stark gene: IFT27 was added
gene: IFT27 was added to Ciliopathies_VCGS. Sources: Expert list
Mode of inheritance for gene: IFT27 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IFT27 were set to 24488770; 30761183; 26763875; 25443296
Phenotypes for gene: IFT27 were set to Bardet-Biedl syndrome 19, MIM#615996
Review for gene: IFT27 was set to GREEN
Added comment: Three families; two with the same variant; functional data.
Sources: Expert list
Ciliopathies v0.45 DCDC2 Zornitza Stark Phenotypes for gene: DCDC2 were changed from Nephronophthisis 19, MIM# 616217 to Nephronophthisis 19, MIM# 616217
Ciliopathies v0.44 DCDC2 Zornitza Stark Marked gene: DCDC2 as ready
Ciliopathies v0.44 DCDC2 Zornitza Stark Gene: dcdc2 has been classified as Amber List (Moderate Evidence).
Ciliopathies v0.44 DCDC2 Zornitza Stark Phenotypes for gene: DCDC2 were changed from to Nephronophthisis 19, MIM# 616217
Ciliopathies v0.44 DCDC2 Zornitza Stark Publications for gene: DCDC2 were set to
Ciliopathies v0.43 DCDC2 Zornitza Stark Mode of inheritance for gene: DCDC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.42 DCDC2 Zornitza Stark Classified gene: DCDC2 as Amber List (moderate evidence)
Ciliopathies v0.42 DCDC2 Zornitza Stark Gene: dcdc2 has been classified as Amber List (Moderate Evidence).
Ciliopathies v0.41 DCDC2 Zornitza Stark reviewed gene: DCDC2: Rating: AMBER; Mode of pathogenicity: None; Publications: 25557784; Phenotypes: Nephronophthisis 19, MIM# 616217; Mode of inheritance: None
Ciliopathies v0.41 GLIS2 Zornitza Stark Marked gene: GLIS2 as ready
Ciliopathies v0.41 GLIS2 Zornitza Stark Gene: glis2 has been classified as Amber List (Moderate Evidence).
Ciliopathies v0.41 GLIS2 Zornitza Stark Phenotypes for gene: GLIS2 were changed from to Nephronophthisis 7, OMIM#611498
Ciliopathies v0.40 GLIS2 Zornitza Stark Publications for gene: GLIS2 were set to
Ciliopathies v0.39 GLIS2 Zornitza Stark Mode of inheritance for gene: GLIS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.38 GLIS2 Zornitza Stark Classified gene: GLIS2 as Amber List (moderate evidence)
Ciliopathies v0.38 GLIS2 Zornitza Stark Gene: glis2 has been classified as Amber List (Moderate Evidence).
Ciliopathies v0.37 GLIS2 Zornitza Stark reviewed gene: GLIS2: Rating: AMBER; Mode of pathogenicity: None; Publications: 17618285, 23559409; Phenotypes: Nephronophthisis 7, OMIM#611498; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.37 IFT81 Zornitza Stark Publications for gene: IFT81 were set to 27666822; 30080953; 28460050; 26275418
Ciliopathies v0.36 IFT81 Zornitza Stark Publications for gene: IFT81 were set to 27666822; 30080953; 28460050; 26275418
Ciliopathies v0.36 IFT81 Zornitza Stark Publications for gene: IFT81 were set to 27666822
Ciliopathies v0.35 IFT81 Zornitza Stark Classified gene: IFT81 as Green List (high evidence)
Ciliopathies v0.35 IFT81 Zornitza Stark Gene: ift81 has been classified as Green List (High Evidence).
Ciliopathies v0.34 IFT81 Zornitza Stark Marked gene: IFT81 as ready
Ciliopathies v0.34 IFT81 Zornitza Stark Gene: ift81 has been classified as Amber List (Moderate Evidence).
Ciliopathies v0.34 IFT81 Zornitza Stark Classified gene: IFT81 as Amber List (moderate evidence)
Ciliopathies v0.34 IFT81 Zornitza Stark Gene: ift81 has been classified as Amber List (Moderate Evidence).
Ciliopathies v0.33 IFT81 Zornitza Stark Classified gene: IFT81 as Amber List (moderate evidence)
Ciliopathies v0.33 IFT81 Zornitza Stark Gene: ift81 has been classified as Amber List (Moderate Evidence).
Ciliopathies v0.33 IFT81 Zornitza Stark Publications for gene: IFT81 were set to
Ciliopathies v0.32 IFT81 Zornitza Stark Phenotypes for gene: IFT81 were changed from to Short-rib thoracic dysplasia 19 with or without polydactyly, MIM# 617895
Ciliopathies v0.31 IFT81 Zornitza Stark Mode of inheritance for gene: IFT81 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.30 IFT81 Zornitza Stark reviewed gene: IFT81: Rating: AMBER; Mode of pathogenicity: None; Publications: 27666822; Phenotypes: Short-rib thoracic dysplasia 19 with or without polydactyly, MIM# 617895; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.30 PDE6D Zornitza Stark Marked gene: PDE6D as ready
Ciliopathies v0.30 PDE6D Zornitza Stark Added comment: Comment when marking as ready: Second family identified PMID 30423442
Ciliopathies v0.30 PDE6D Zornitza Stark Gene: pde6d has been classified as Amber List (Moderate Evidence).
Ciliopathies v0.30 PDE6D Zornitza Stark Publications for gene: PDE6D were set to 24166846; 30423442
Ciliopathies v0.29 PDE6D Zornitza Stark Publications for gene: PDE6D were set to 24166846
Ciliopathies v0.29 PDE6D Zornitza Stark Classified gene: PDE6D as Amber List (moderate evidence)
Ciliopathies v0.29 PDE6D Zornitza Stark Gene: pde6d has been classified as Amber List (Moderate Evidence).
Ciliopathies v0.28 PDE6D Zornitza Stark Marked gene: PDE6D as ready
Ciliopathies v0.28 PDE6D Zornitza Stark Gene: pde6d has been classified as Red List (Low Evidence).
Ciliopathies v0.28 PDE6D Zornitza Stark Phenotypes for gene: PDE6D were changed from to Joubert syndrome 22, OMIM #615665
Ciliopathies v0.27 PDE6D Zornitza Stark Publications for gene: PDE6D were set to
Ciliopathies v0.26 PDE6D Zornitza Stark Mode of inheritance for gene: PDE6D was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.25 PDE6D Zornitza Stark Classified gene: PDE6D as Red List (low evidence)
Ciliopathies v0.25 PDE6D Zornitza Stark Gene: pde6d has been classified as Red List (Low Evidence).
Ciliopathies v0.24 PDE6D Zornitza Stark reviewed gene: PDE6D: Rating: RED; Mode of pathogenicity: None; Publications: 24166846; Phenotypes: Joubert syndrome 22, OMIM #615665; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.24 TRIM32 Zornitza Stark Marked gene: TRIM32 as ready
Ciliopathies v0.24 TRIM32 Zornitza Stark Gene: trim32 has been classified as Red List (Low Evidence).
Ciliopathies v0.24 TRIM32 Zornitza Stark Phenotypes for gene: TRIM32 were changed from to Bardet-Biedl syndrome 11, MIM# 615988
Ciliopathies v0.24 TRIM32 Zornitza Stark Publications for gene: TRIM32 were set to
Ciliopathies v0.23 TRIM32 Zornitza Stark Mode of inheritance for gene: TRIM32 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.22 TRIM32 Zornitza Stark Classified gene: TRIM32 as Red List (low evidence)
Ciliopathies v0.22 TRIM32 Zornitza Stark Gene: trim32 has been classified as Red List (Low Evidence).
Ciliopathies v0.21 TRIM32 Zornitza Stark reviewed gene: TRIM32: Rating: RED; Mode of pathogenicity: None; Publications: 16606853; Phenotypes: Bardet-Biedl syndrome 11, MIM# 615988; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.21 XPNPEP3 Zornitza Stark Marked gene: XPNPEP3 as ready
Ciliopathies v0.21 XPNPEP3 Zornitza Stark Gene: xpnpep3 has been classified as Red List (Low Evidence).
Ciliopathies v0.21 XPNPEP3 Zornitza Stark Mode of inheritance for gene: XPNPEP3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.20 XPNPEP3 Zornitza Stark Classified gene: XPNPEP3 as Red List (low evidence)
Ciliopathies v0.20 XPNPEP3 Zornitza Stark Gene: xpnpep3 has been classified as Red List (Low Evidence).
Ciliopathies v0.19 XPNPEP3 Zornitza Stark Phenotypes for gene: XPNPEP3 were changed from to Nephronophthisis-like nephropathy 1, OMIM #613159
Ciliopathies v0.19 XPNPEP3 Zornitza Stark Publications for gene: XPNPEP3 were set to
Ciliopathies v0.19 XPNPEP3 Zornitza Stark Classified gene: XPNPEP3 as Red List (low evidence)
Ciliopathies v0.19 XPNPEP3 Zornitza Stark Gene: xpnpep3 has been classified as Red List (Low Evidence).
Ciliopathies v0.18 XPNPEP3 Zornitza Stark reviewed gene: XPNPEP3: Rating: RED; Mode of pathogenicity: None; Publications: 20179356; Phenotypes: Nephronophthisis-like nephropathy 1, OMIM #613159; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.18 ZNF423 Zornitza Stark Marked gene: ZNF423 as ready
Ciliopathies v0.18 ZNF423 Zornitza Stark Gene: znf423 has been classified as Red List (Low Evidence).
Ciliopathies v0.18 ZNF423 Zornitza Stark Phenotypes for gene: ZNF423 were changed from to Joubert syndrome 19, OMIM# 614844
Ciliopathies v0.17 ZNF423 Zornitza Stark Publications for gene: ZNF423 were set to
Ciliopathies v0.16 ZNF423 Zornitza Stark Mode of inheritance for gene: ZNF423 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Ciliopathies v0.15 ZNF423 Zornitza Stark Classified gene: ZNF423 as Red List (low evidence)
Ciliopathies v0.15 ZNF423 Zornitza Stark Gene: znf423 has been classified as Red List (Low Evidence).
Ciliopathies v0.14 ZNF423 Zornitza Stark reviewed gene: ZNF423: Rating: RED; Mode of pathogenicity: None; Publications: 22863007; Phenotypes: Joubert syndrome 19, OMIM# 614844; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Ciliopathies v0.14 CCDC28B Zornitza Stark Marked gene: CCDC28B as ready
Ciliopathies v0.14 CCDC28B Zornitza Stark Gene: ccdc28b has been classified as Red List (Low Evidence).
Ciliopathies v0.14 CCDC28B Zornitza Stark Mode of inheritance for gene: CCDC28B was changed from Unknown to Other
Ciliopathies v0.13 CCDC28B Zornitza Stark Phenotypes for gene: CCDC28B were changed from to {Bardet-Biedl syndrome 1, modifier of}, MIM#209900
Ciliopathies v0.12 CCDC28B Zornitza Stark Classified gene: CCDC28B as Red List (low evidence)
Ciliopathies v0.12 CCDC28B Zornitza Stark Gene: ccdc28b has been classified as Red List (Low Evidence).
Ciliopathies v0.11 CCDC28B Zornitza Stark reviewed gene: CCDC28B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: {Bardet-Biedl syndrome 1, modifier of}, MIM#209900; Mode of inheritance: Other
Ciliopathies v0.11 TBC1D32 Zornitza Stark Marked gene: TBC1D32 as ready
Ciliopathies v0.11 TBC1D32 Zornitza Stark Gene: tbc1d32 has been classified as Red List (Low Evidence).
Ciliopathies v0.11 TBC1D32 Zornitza Stark Phenotypes for gene: TBC1D32 were changed from to Orofaciodigital syndrome type IX
Ciliopathies v0.10 TBC1D32 Zornitza Stark Publications for gene: TBC1D32 were set to
Ciliopathies v0.9 TBC1D32 Zornitza Stark Mode of inheritance for gene: TBC1D32 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.8 TBC1D32 Zornitza Stark Classified gene: TBC1D32 as Red List (low evidence)
Ciliopathies v0.8 TBC1D32 Zornitza Stark Gene: tbc1d32 has been classified as Red List (Low Evidence).
Ciliopathies v0.7 TBC1D32 Zornitza Stark reviewed gene: TBC1D32: Rating: RED; Mode of pathogenicity: None; Publications: 24285566; Phenotypes: Orofaciodigital syndrome type IX; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.7 SCLT1 Zornitza Stark Marked gene: SCLT1 as ready
Ciliopathies v0.7 SCLT1 Zornitza Stark Gene: sclt1 has been classified as Green List (High Evidence).
Ciliopathies v0.7 SCLT1 Zornitza Stark Phenotypes for gene: SCLT1 were changed from to Orofaciodigital syndrome type IX; Senior-Loken syndrome
Ciliopathies v0.6 SCLT1 Zornitza Stark Publications for gene: SCLT1 were set to
Ciliopathies v0.5 SCLT1 Zornitza Stark Mode of inheritance for gene: SCLT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.4 SCLT1 Zornitza Stark reviewed gene: SCLT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28486600, 30425282, 30237576, 28005958, 24285566; Phenotypes: Orofaciodigital syndrome type IX, Senior-Loken syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.4 EXOC3L2 Zornitza Stark Phenotypes for gene: EXOC3L2 were changed from Dandy-Walker malformation; renal dysplasia; bone marrow failure to Dandy-Walker malformation; renal dysplasia; bone marrow failure
Ciliopathies v0.3 EXOC3L2 Zornitza Stark Marked gene: EXOC3L2 as ready
Ciliopathies v0.3 EXOC3L2 Zornitza Stark Gene: exoc3l2 has been classified as Green List (High Evidence).
Ciliopathies v0.3 EXOC3L2 Zornitza Stark Phenotypes for gene: EXOC3L2 were changed from to Dandy-Walker malformation; renal dysplasia; bone marrow failure
Ciliopathies v0.2 EXOC3L2 Zornitza Stark Mode of inheritance for gene: EXOC3L2 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.1 EXOC3L2 Zornitza Stark Publications for gene: EXOC3L2 were set to
Ciliopathies v0.1 EXOC3L2 Zornitza Stark Mode of inheritance for gene: EXOC3L2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.0 EXOC3L2 Zornitza Stark reviewed gene: EXOC3L2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30327448, 27894351, 28749478; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.0 ZNF423 Zornitza Stark gene: ZNF423 was added
gene: ZNF423 was added to Ciliopathies_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ZNF423 was set to Unknown
Ciliopathies v0.0 ZIC3 Zornitza Stark gene: ZIC3 was added
gene: ZIC3 was added to Ciliopathies_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ZIC3 was set to Unknown
Ciliopathies v0.0 XPNPEP3 Zornitza Stark gene: XPNPEP3 was added
gene: XPNPEP3 was added to Ciliopathies_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: XPNPEP3 was set to Unknown
Ciliopathies v0.0 WDR60 Zornitza Stark gene: WDR60 was added
gene: WDR60 was added to Ciliopathies_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: WDR60 was set to Unknown
Ciliopathies v0.0 WDR35 Zornitza Stark gene: WDR35 was added
gene: WDR35 was added to Ciliopathies_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: WDR35 was set to Unknown
Ciliopathies v0.0 WDR34 Zornitza Stark gene: WDR34 was added
gene: WDR34 was added to Ciliopathies_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: WDR34 was set to Unknown
Ciliopathies v0.0 WDR19 Zornitza Stark gene: WDR19 was added
gene: WDR19 was added to Ciliopathies_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: WDR19 was set to Unknown
Ciliopathies v0.0 WDPCP Zornitza Stark gene: WDPCP was added
gene: WDPCP was added to Ciliopathies_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: WDPCP was set to Unknown
Ciliopathies v0.0 UMOD Zornitza Stark gene: UMOD was added
gene: UMOD was added to Ciliopathies_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: UMOD was set to Unknown
Ciliopathies v0.0 TXNDC15 Zornitza Stark gene: TXNDC15 was added
gene: TXNDC15 was added to Ciliopathies_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TXNDC15 was set to Unknown
Ciliopathies v0.0 TTC8 Zornitza Stark gene: TTC8 was added
gene: TTC8 was added to Ciliopathies_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TTC8 was set to Unknown
Ciliopathies v0.0 TTC21B Zornitza Stark gene: TTC21B was added
gene: TTC21B was added to Ciliopathies_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TTC21B was set to Unknown
Ciliopathies v0.0 TRIM32 Zornitza Stark gene: TRIM32 was added
gene: TRIM32 was added to Ciliopathies_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TRIM32 was set to Unknown
Ciliopathies v0.0 TRAF3IP1 Zornitza Stark gene: TRAF3IP1 was added
gene: TRAF3IP1 was added to Ciliopathies_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TRAF3IP1 was set to Unknown
Ciliopathies v0.0 TMEM67 Zornitza Stark gene: TMEM67 was added
gene: TMEM67 was added to Ciliopathies_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TMEM67 was set to Unknown
Ciliopathies v0.0 TMEM237 Zornitza Stark gene: TMEM237 was added
gene: TMEM237 was added to Ciliopathies_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TMEM237 was set to Unknown
Ciliopathies v0.0 TMEM231 Zornitza Stark gene: TMEM231 was added
gene: TMEM231 was added to Ciliopathies_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TMEM231 was set to Unknown
Ciliopathies v0.0 TMEM216 Zornitza Stark gene: TMEM216 was added
gene: TMEM216 was added to Ciliopathies_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TMEM216 was set to Unknown
Ciliopathies v0.0 TMEM138 Zornitza Stark gene: TMEM138 was added
gene: TMEM138 was added to Ciliopathies_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TMEM138 was set to Unknown
Ciliopathies v0.0 TMEM107 Zornitza Stark gene: TMEM107 was added
gene: TMEM107 was added to Ciliopathies_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TMEM107 was set to Unknown
Ciliopathies v0.0 TCTN3 Zornitza Stark gene: TCTN3 was added
gene: TCTN3 was added to Ciliopathies_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TCTN3 was set to Unknown
Ciliopathies v0.0 TCTN2 Zornitza Stark gene: TCTN2 was added
gene: TCTN2 was added to Ciliopathies_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TCTN2 was set to Unknown
Ciliopathies v0.0 TCTN1 Zornitza Stark gene: TCTN1 was added
gene: TCTN1 was added to Ciliopathies_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TCTN1 was set to Unknown
Ciliopathies v0.0 TCTEX1D2 Zornitza Stark gene: TCTEX1D2 was added
gene: TCTEX1D2 was added to Ciliopathies_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TCTEX1D2 was set to Unknown
Ciliopathies v0.0 TBC1D32 Zornitza Stark gene: TBC1D32 was added
gene: TBC1D32 was added to Ciliopathies_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TBC1D32 was set to Unknown
Ciliopathies v0.0 TAPT1 Zornitza Stark gene: TAPT1 was added
gene: TAPT1 was added to Ciliopathies_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TAPT1 was set to Unknown
Ciliopathies v0.0 SUFU Zornitza Stark gene: SUFU was added
gene: SUFU was added to Ciliopathies_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SUFU was set to Unknown
Ciliopathies v0.0 SEC63 Zornitza Stark gene: SEC63 was added
gene: SEC63 was added to Ciliopathies_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SEC63 was set to Unknown
Ciliopathies v0.0 SDCCAG8 Zornitza Stark gene: SDCCAG8 was added
gene: SDCCAG8 was added to Ciliopathies_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SDCCAG8 was set to Unknown
Ciliopathies v0.0 SCLT1 Zornitza Stark gene: SCLT1 was added
gene: SCLT1 was added to Ciliopathies_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SCLT1 was set to Unknown
Ciliopathies v0.0 SBDS Zornitza Stark gene: SBDS was added
gene: SBDS was added to Ciliopathies_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SBDS was set to Unknown
Ciliopathies v0.0 RPGRIP1L Zornitza Stark gene: RPGRIP1L was added
gene: RPGRIP1L was added to Ciliopathies_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RPGRIP1L was set to Unknown
Ciliopathies v0.0 RPGR Zornitza Stark gene: RPGR was added
gene: RPGR was added to Ciliopathies_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RPGR was set to Unknown
Ciliopathies v0.0 PRKCSH Zornitza Stark gene: PRKCSH was added
gene: PRKCSH was added to Ciliopathies_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PRKCSH was set to Unknown
Ciliopathies v0.0 POC1B Zornitza Stark gene: POC1B was added
gene: POC1B was added to Ciliopathies_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: POC1B was set to Unknown
Ciliopathies v0.0 PKHD1 Zornitza Stark gene: PKHD1 was added
gene: PKHD1 was added to Ciliopathies_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PKHD1 was set to Unknown
Ciliopathies v0.0 PKD2 Zornitza Stark gene: PKD2 was added
gene: PKD2 was added to Ciliopathies_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PKD2 was set to Unknown
Ciliopathies v0.0 PKD1 Zornitza Stark gene: PKD1 was added
gene: PKD1 was added to Ciliopathies_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PKD1 was set to Unknown
Ciliopathies v0.0 PDE6D Zornitza Stark gene: PDE6D was added
gene: PDE6D was added to Ciliopathies_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PDE6D was set to Unknown
Ciliopathies v0.0 OFD1 Zornitza Stark gene: OFD1 was added
gene: OFD1 was added to Ciliopathies_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: OFD1 was set to Unknown
Ciliopathies v0.0 NPHP4 Zornitza Stark gene: NPHP4 was added
gene: NPHP4 was added to Ciliopathies_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NPHP4 was set to Unknown
Ciliopathies v0.0 NPHP3 Zornitza Stark gene: NPHP3 was added
gene: NPHP3 was added to Ciliopathies_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NPHP3 was set to Unknown
Ciliopathies v0.0 NPHP1 Zornitza Stark gene: NPHP1 was added
gene: NPHP1 was added to Ciliopathies_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NPHP1 was set to Unknown
Ciliopathies v0.0 NODAL Zornitza Stark gene: NODAL was added
gene: NODAL was added to Ciliopathies_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NODAL was set to Unknown
Ciliopathies v0.0 NEK8 Zornitza Stark gene: NEK8 was added
gene: NEK8 was added to Ciliopathies_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NEK8 was set to Unknown
Ciliopathies v0.0 NEK1 Zornitza Stark gene: NEK1 was added
gene: NEK1 was added to Ciliopathies_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NEK1 was set to Unknown
Ciliopathies v0.0 MUC1 Zornitza Stark gene: MUC1 was added
gene: MUC1 was added to Ciliopathies_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MUC1 was set to Unknown
Ciliopathies v0.0 MKS1 Zornitza Stark gene: MKS1 was added
gene: MKS1 was added to Ciliopathies_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MKS1 was set to Unknown
Ciliopathies v0.0 MKKS Zornitza Stark gene: MKKS was added
gene: MKKS was added to Ciliopathies_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MKKS was set to Unknown
Ciliopathies v0.0 MAPKBP1 Zornitza Stark gene: MAPKBP1 was added
gene: MAPKBP1 was added to Ciliopathies_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MAPKBP1 was set to Unknown
Ciliopathies v0.0 LZTFL1 Zornitza Stark gene: LZTFL1 was added
gene: LZTFL1 was added to Ciliopathies_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: LZTFL1 was set to Unknown
Ciliopathies v0.0 LBR Zornitza Stark gene: LBR was added
gene: LBR was added to Ciliopathies_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: LBR was set to Unknown
Ciliopathies v0.0 KIF7 Zornitza Stark gene: KIF7 was added
gene: KIF7 was added to Ciliopathies_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: KIF7 was set to Unknown
Ciliopathies v0.0 KIAA0753 Zornitza Stark gene: KIAA0753 was added
gene: KIAA0753 was added to Ciliopathies_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: KIAA0753 was set to Unknown
Ciliopathies v0.0 KIAA0586 Zornitza Stark gene: KIAA0586 was added
gene: KIAA0586 was added to Ciliopathies_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: KIAA0586 was set to Unknown
Ciliopathies v0.0 IQCB1 Zornitza Stark gene: IQCB1 was added
gene: IQCB1 was added to Ciliopathies_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: IQCB1 was set to Unknown
Ciliopathies v0.0 INVS Zornitza Stark gene: INVS was added
gene: INVS was added to Ciliopathies_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: INVS was set to Unknown
Ciliopathies v0.0 INPP5E Zornitza Stark gene: INPP5E was added
gene: INPP5E was added to Ciliopathies_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: INPP5E was set to Unknown
Ciliopathies v0.0 IFT81 Zornitza Stark gene: IFT81 was added
gene: IFT81 was added to Ciliopathies_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: IFT81 was set to Unknown
Ciliopathies v0.0 IFT80 Zornitza Stark gene: IFT80 was added
gene: IFT80 was added to Ciliopathies_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: IFT80 was set to Unknown
Ciliopathies v0.0 IFT52 Zornitza Stark gene: IFT52 was added
gene: IFT52 was added to Ciliopathies_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: IFT52 was set to Unknown
Ciliopathies v0.0 IFT43 Zornitza Stark gene: IFT43 was added
gene: IFT43 was added to Ciliopathies_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: IFT43 was set to Unknown
Ciliopathies v0.0 IFT172 Zornitza Stark gene: IFT172 was added
gene: IFT172 was added to Ciliopathies_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: IFT172 was set to Unknown
Ciliopathies v0.0 IFT140 Zornitza Stark gene: IFT140 was added
gene: IFT140 was added to Ciliopathies_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: IFT140 was set to Unknown
Ciliopathies v0.0 IFT122 Zornitza Stark gene: IFT122 was added
gene: IFT122 was added to Ciliopathies_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: IFT122 was set to Unknown
Ciliopathies v0.0 HYLS1 Zornitza Stark gene: HYLS1 was added
gene: HYLS1 was added to Ciliopathies_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: HYLS1 was set to Unknown
Ciliopathies v0.0 HNF1B Zornitza Stark gene: HNF1B was added
gene: HNF1B was added to Ciliopathies_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: HNF1B was set to Unknown
Ciliopathies v0.0 GLIS2 Zornitza Stark gene: GLIS2 was added
gene: GLIS2 was added to Ciliopathies_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GLIS2 was set to Unknown
Ciliopathies v0.0 GLI3 Zornitza Stark gene: GLI3 was added
gene: GLI3 was added to Ciliopathies_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GLI3 was set to Unknown
Ciliopathies v0.0 GDF1 Zornitza Stark gene: GDF1 was added
gene: GDF1 was added to Ciliopathies_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GDF1 was set to Unknown
Ciliopathies v0.0 EXOC3L2 Zornitza Stark gene: EXOC3L2 was added
gene: EXOC3L2 was added to Ciliopathies_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: EXOC3L2 was set to Unknown
Ciliopathies v0.0 EVC2 Zornitza Stark gene: EVC2 was added
gene: EVC2 was added to Ciliopathies_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: EVC2 was set to Unknown
Ciliopathies v0.0 EVC Zornitza Stark gene: EVC was added
gene: EVC was added to Ciliopathies_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: EVC was set to Unknown
Ciliopathies v0.0 DYNC2LI1 Zornitza Stark gene: DYNC2LI1 was added
gene: DYNC2LI1 was added to Ciliopathies_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DYNC2LI1 was set to Unknown
Ciliopathies v0.0 DYNC2H1 Zornitza Stark gene: DYNC2H1 was added
gene: DYNC2H1 was added to Ciliopathies_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DYNC2H1 was set to Unknown
Ciliopathies v0.0 DDX59 Zornitza Stark gene: DDX59 was added
gene: DDX59 was added to Ciliopathies_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DDX59 was set to Unknown
Ciliopathies v0.0 DCDC2 Zornitza Stark gene: DCDC2 was added
gene: DCDC2 was added to Ciliopathies_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DCDC2 was set to Unknown
Ciliopathies v0.0 CSPP1 Zornitza Stark gene: CSPP1 was added
gene: CSPP1 was added to Ciliopathies_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CSPP1 was set to Unknown
Ciliopathies v0.0 CRELD1 Zornitza Stark gene: CRELD1 was added
gene: CRELD1 was added to Ciliopathies_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CRELD1 was set to Unknown
Ciliopathies v0.0 CRB2 Zornitza Stark gene: CRB2 was added
gene: CRB2 was added to Ciliopathies_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CRB2 was set to Unknown
Ciliopathies v0.0 C5orf42 Zornitza Stark gene: C5orf42 was added
gene: C5orf42 was added to Ciliopathies_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: C5orf42 was set to Unknown
Ciliopathies v0.0 CFC1 Zornitza Stark gene: CFC1 was added
gene: CFC1 was added to Ciliopathies_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CFC1 was set to Unknown
Ciliopathies v0.0 CFAP53 Zornitza Stark gene: CFAP53 was added
gene: CFAP53 was added to Ciliopathies_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CFAP53 was set to Unknown
Ciliopathies v0.0 C21orf2 Zornitza Stark gene: C21orf2 was added
gene: C21orf2 was added to Ciliopathies_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: C21orf2 was set to Unknown
Ciliopathies v0.0 CEP83 Zornitza Stark gene: CEP83 was added
gene: CEP83 was added to Ciliopathies_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CEP83 was set to Unknown
Ciliopathies v0.0 CEP55 Zornitza Stark gene: CEP55 was added
gene: CEP55 was added to Ciliopathies_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CEP55 was set to Unknown
Ciliopathies v0.0 CEP41 Zornitza Stark gene: CEP41 was added
gene: CEP41 was added to Ciliopathies_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CEP41 was set to Unknown
Ciliopathies v0.0 CEP290 Zornitza Stark gene: CEP290 was added
gene: CEP290 was added to Ciliopathies_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CEP290 was set to Unknown
Ciliopathies v0.0 CEP164 Zornitza Stark gene: CEP164 was added
gene: CEP164 was added to Ciliopathies_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CEP164 was set to Unknown
Ciliopathies v0.0 CEP120 Zornitza Stark gene: CEP120 was added
gene: CEP120 was added to Ciliopathies_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CEP120 was set to Unknown
Ciliopathies v0.0 CEP104 Zornitza Stark gene: CEP104 was added
gene: CEP104 was added to Ciliopathies_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CEP104 was set to Unknown
Ciliopathies v0.0 CENPF Zornitza Stark gene: CENPF was added
gene: CENPF was added to Ciliopathies_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CENPF was set to Unknown
Ciliopathies v0.0 CCDC28B Zornitza Stark gene: CCDC28B was added
gene: CCDC28B was added to Ciliopathies_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CCDC28B was set to Unknown
Ciliopathies v0.0 CC2D2A Zornitza Stark gene: CC2D2A was added
gene: CC2D2A was added to Ciliopathies_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CC2D2A was set to Unknown
Ciliopathies v0.0 C2CD3 Zornitza Stark gene: C2CD3 was added
gene: C2CD3 was added to Ciliopathies_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: C2CD3 was set to Unknown
Ciliopathies v0.0 BBS9 Zornitza Stark gene: BBS9 was added
gene: BBS9 was added to Ciliopathies_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: BBS9 was set to Unknown
Ciliopathies v0.0 BBS7 Zornitza Stark gene: BBS7 was added
gene: BBS7 was added to Ciliopathies_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: BBS7 was set to Unknown
Ciliopathies v0.0 BBS5 Zornitza Stark gene: BBS5 was added
gene: BBS5 was added to Ciliopathies_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: BBS5 was set to Unknown
Ciliopathies v0.0 BBS4 Zornitza Stark gene: BBS4 was added
gene: BBS4 was added to Ciliopathies_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: BBS4 was set to Unknown
Ciliopathies v0.0 BBS2 Zornitza Stark gene: BBS2 was added
gene: BBS2 was added to Ciliopathies_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: BBS2 was set to Unknown
Ciliopathies v0.0 BBS12 Zornitza Stark gene: BBS12 was added
gene: BBS12 was added to Ciliopathies_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: BBS12 was set to Unknown
Ciliopathies v0.0 BBS10 Zornitza Stark gene: BBS10 was added
gene: BBS10 was added to Ciliopathies_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: BBS10 was set to Unknown
Ciliopathies v0.0 BBS1 Zornitza Stark gene: BBS1 was added
gene: BBS1 was added to Ciliopathies_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: BBS1 was set to Unknown
Ciliopathies v0.0 B9D2 Zornitza Stark gene: B9D2 was added
gene: B9D2 was added to Ciliopathies_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: B9D2 was set to Unknown
Ciliopathies v0.0 B9D1 Zornitza Stark gene: B9D1 was added
gene: B9D1 was added to Ciliopathies_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: B9D1 was set to Unknown
Ciliopathies v0.0 ARMC8 Zornitza Stark gene: ARMC8 was added
gene: ARMC8 was added to Ciliopathies_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ARMC8 was set to Unknown
Ciliopathies v0.0 ARL6 Zornitza Stark gene: ARL6 was added
gene: ARL6 was added to Ciliopathies_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ARL6 was set to Unknown
Ciliopathies v0.0 ARL13B Zornitza Stark gene: ARL13B was added
gene: ARL13B was added to Ciliopathies_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ARL13B was set to Unknown
Ciliopathies v0.0 ANKS6 Zornitza Stark gene: ANKS6 was added
gene: ANKS6 was added to Ciliopathies_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ANKS6 was set to Unknown
Ciliopathies v0.0 ALMS1 Zornitza Stark gene: ALMS1 was added
gene: ALMS1 was added to Ciliopathies_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ALMS1 was set to Unknown
Ciliopathies v0.0 AHI1 Zornitza Stark gene: AHI1 was added
gene: AHI1 was added to Ciliopathies_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: AHI1 was set to Unknown
Ciliopathies v0.0 ACVR2B Zornitza Stark gene: ACVR2B was added
gene: ACVR2B was added to Ciliopathies_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ACVR2B was set to Unknown
Ciliopathies v0.0 Zornitza Stark Added panel Ciliopathies_VCGS