Sarah Leigh Phenotypes for gene: COL4A1 were changed from Walker Warburg Syndrome to Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, OMIM:611773; autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, MONDO:0012726
Sarah Leigh edited their review of gene: COL4A1: Added comment: Based on the review published by Rannikmäe et al (PMID: 32842921), numerous COL4A1 variants have been associated with muscle phenotypes (supplementary table IIIA).; Changed rating: GREEN; Changed publications to: 32842921
Gavin Ryan reviewed gene: COL4A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 18160688, 20818663; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Arina Puzriakova Phenotypes for gene: COL4A1 were changed from walker warburg syndrome, muscle eye brain disease; Brain small vessel disease with or without ocular anomalies, 175780 to Walker Warburg Syndrome
Louise Daugherty Phenotypes for gene: COL4A1 were changed from walker warburg syndrome, muscle eye brain disease to walker warburg syndrome, muscle eye brain disease; Brain small vessel disease with or without ocular anomalies, 175780
Louise Daugherty Publications for gene COL4A2 were changed from 22037604 - Drosophilia model seems to implicate COL4A1 and not COL4A2 in myopathy to 22037604