Bilateral congenital or childhood onset cataracts
Gene: COL6A3Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene has been given a Red rating as this phenotype is not appropriate for this panel.
This gene has been added to the Structural eye disease panel (panel ID: 509).Created: 19 Mar 2021, 1:12 p.m. | Last Modified: 19 Mar 2021, 1:12 p.m.
Panel Version: 2.66
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.
Sources: LiteratureCreated: 7 Jan 2021, 8:48 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Peters anomaly
Publications
Gene: col6a3 has been classified as Red List (Low Evidence).
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