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Polydactyly v0.214 CEP164 Zornitza Stark Marked gene: CEP164 as ready
Polydactyly v0.214 CEP164 Zornitza Stark Gene: cep164 has been classified as Green List (High Evidence).
Polydactyly v0.214 CEP164 Zornitza Stark Phenotypes for gene: CEP164 were changed from to Bardet-Biedl syndrome; Nephronophthisis 15, MIM# 614845; Oro-facio-digital syndrome
Polydactyly v0.213 CEP164 Zornitza Stark Publications for gene: CEP164 were set to
Polydactyly v0.212 CEP164 Zornitza Stark Deleted their comment
Polydactyly v0.212 CEP164 Zornitza Stark edited their review of gene: CEP164: Added comment: 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.; Changed rating: GREEN; Changed publications: 34132027, 34013113, 32055034, 27708425, 22863007; Changed phenotypes: Bardet-Biedl syndrome, Nephronophthisis 15, MIM# 614845, Oro-facio-digital syndrome
Polydactyly v0.59 CEP164 Zornitza Stark Mode of inheritance for gene: CEP164 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.36 CEP164 Anand Vasudevan reviewed gene: CEP164: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.0 CEP164 Zornitza Stark gene: CEP164 was added
gene: CEP164 was added to Polydactyly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CEP164 was set to Unknown