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Bilateral congenital or childhood onset cataracts

Gene: COL6A3

Red List (low evidence)

COL6A3 (collagen type VI alpha 3 chain)
EnsemblGeneIds (GRCh38): ENSG00000163359
EnsemblGeneIds (GRCh37): ENSG00000163359
OMIM: 120250, Gene2Phenotype
COL6A3 is in 13 panels

2 reviews

Ivone Leong (Genomics England Curator)

Comment 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

Zornitza Stark (Australian Genomics)

I don't know

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: Literature
Created: 7 Jan 2021, 8:48 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Peters anomaly


History Filter Activity

19 Mar 2021, Gel status: 1

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: col6a3 has been classified as Red List (Low Evidence).

7 Jan 2021, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Australian Genomics)

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