Eye Anterior Segment Abnormalities
Gene: COL6A3
COL6A3 (collagen type VI alpha 3 chain)
EnsemblGeneIds (GRCh38): ENSG00000163359
EnsemblGeneIds (GRCh37): ENSG00000163359
OMIM: 120250, Gene2Phenotype
COL6A3 is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000163359
EnsemblGeneIds (GRCh37): ENSG00000163359
OMIM: 120250, Gene2Phenotype
COL6A3 is in 13 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
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: 29 Dec 2020, 7:22 a.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
-
- Cerebral Palsy
- Muscular dystrophy and myopathy_Paediatric
- Mackenzie's Mission_Reproductive Carrier Screening
- Limb-Girdle Muscular Dystrophy and Distal Myopathy
- Fetal anomalies
- Additional findings_Paediatric
- Prepair 1000+
- Arthrogryposis
- Mendeliome
- Eye Anterior Segment Abnormalities
- Dystonia - isolated/combined
- BabyScreen+ newborn screening
- Aortopathy_Connective Tissue Disorders
History Filter Activity
29 Dec 2020, Gel status: 2
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: col6a3 has been classified as Amber List (Moderate Evidence).
29 Dec 2020, Gel status: 2
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: col6a3 has been classified as Amber List (Moderate Evidence).
29 Dec 2020, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: COL6A3 was added gene: COL6A3 was added to Eye Anterior Segment Abnormalities. 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