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Intellectual disability v11.67 CEP63 Ida Ertmanska commented on gene: CEP63: Comment on list classification: There are 2 unrelated families reported with biallelic nonsense CEP63 variants and Seckel syndrome, including mild to moderate intellectual disability. There is a mouse model reported where CEP63 deficiency results in microcephaly, but without mention of impaired learning / intellectual functioning. Hence, this gene should remain Amber on Intellectual disability, until more evidence emerges.
Intellectual disability v11.51 CEP63 Ida Ertmanska Phenotypes for gene: CEP63 were changed from ?Seckel syndrome 6 614728; Developmental dyslexia to ?Seckel syndrome 6 , OMIM:614728; Seckel syndrome 6, MONDO:0013871; SCKL6
Intellectual disability v11.50 CEP63 Ida Ertmanska Publications for gene: CEP63 were set to 21983783; 26400686
Intellectual disability v11.49 CEP63 Ida Ertmanska Mode of inheritance for gene: CEP63 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v11.48 CEP63 Ida Ertmanska reviewed gene: CEP63: Rating: AMBER; Mode of pathogenicity: None; Publications: 21983783, 26158450, 34068194, 37017437; Phenotypes: ?Seckel syndrome 6 , OMIM:614728, Seckel syndrome 6, MONDO:0013871, SCKL6; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v3.831 CEP63 Catherine Snow Source: Expert Review Red was removed from gene: CEP63