Bilateral congenital or childhood onset cataracts
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
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)
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Phenotypes
-
- Peters anomaly
- OMIM
- 120250
- Clinvar variants
- Variants in COL6A3
- Penetrance
- None
- Publications
- Panels with this gene
-
- DDG2P
- Congenital myopathy
- Structural eye disease
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Arthrogryposis
- Intellectual disability
- 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: 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