Not sure if this is the right panel for Peters anomaly.
Variants in this gene are associated with neurological phenotypes (myopathy, dystonia). Two families reported with bi-allelic missense variants in this gene and Peters anomaly, limited functional data.
Created: 7 Jan 2021, 8:48 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
gene: COL6A3 was added gene: COL6A3 was added to Cataracts. Sources: Literature Mode of inheritance for gene: COL6A3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COL6A3 were set to 33304895 Phenotypes for gene: COL6A3 were set to Peters anomaly Review for gene: COL6A3 was set to AMBER