Structural eye disease
Gene: COL6A3
COL6A3 (collagen type VI alpha 3 chain)
EnsemblGeneIds (GRCh38): ENSG00000163359
EnsemblGeneIds (GRCh37): ENSG00000163359
OMIM: 120250, Gene2Phenotype
COL6A3 is in 11 panels
EnsemblGeneIds (GRCh38): ENSG00000163359
EnsemblGeneIds (GRCh37): ENSG00000163359
OMIM: 120250, Gene2Phenotype
COL6A3 is in 11 panels
1 review
Ivone Leong (Genomics England Curator)
New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a phenotype in OMIM and Gene2Phenotype.
Zornitza's review on the Cataracts 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: Literature
Zornitza Stark (Australian Genomics), 7 Jan 2021"
There is currently not enough evidence to support a gene-disease association, so this gene has been given an Amber rating.
Sources: LiteratureCreated: 19 Mar 2021, 1:32 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Peters anomaly
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Literature
- Phenotypes
-
- Peters anomaly
- OMIM
- 120250
- Clinvar variants
- Variants in COL6A3
- Penetrance
- None
- Publications
- Panels with this gene
-
- DDG2P
- Congenital myopathy
- Intellectual disability
- Structural eye disease
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Arthrogryposis
- Ehlers Danlos syndrome with a likely monogenic cause
- Fetal anomalies
- Congenital muscular dystrophy
- Bilateral congenital or childhood onset cataracts
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
19 Mar 2021, Gel status: 2
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: col6a3 has been classified as Amber List (Moderate Evidence).
19 Mar 2021, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: COL6A3 was added gene: COL6A3 was added to Structural eye disease. 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