Tracy Lester reviewed gene: COL4A1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23225343; Phenotypes: Retinal arteries tortuosity of 180000, Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, 611773, Brain small vessel disease with or without ocular anomalies, 607595, Porencephaly, 175780, Schizencephaly 269160; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 4 variants reported in unrelated cases in which seizures are a phenotypic feature.
Sarah Leigh Phenotypes for gene: COL4A1 were changed from to Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps 611773; Brain small vessel disease with or without ocular anomalies 607595; Porencephaly 1 175780; Schizencephaly 269160