Cataract
Gene: COL9A1
COL9A1 (collagen type IX alpha 1 chain)
EnsemblGeneIds (GRCh38): ENSG00000112280
EnsemblGeneIds (GRCh37): ENSG00000112280
OMIM: 120210, Gene2Phenotype
COL9A1 is in 12 panels
EnsemblGeneIds (GRCh38): ENSG00000112280
EnsemblGeneIds (GRCh37): ENSG00000112280
OMIM: 120210, Gene2Phenotype
COL9A1 is in 12 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Premature cataract is a feature of Stickler syndrome generally. Two individuals from two families reported with bi-allelic COL9A1 variants and cataract in PMID 21421862.Created: 6 Oct 2020, 7:05 a.m. | Last Modified: 6 Oct 2020, 7:05 a.m.
Panel Version: 0.232
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Stickler syndrome, type IV, OMIM# 614134
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Phenotypes
-
- Stickler syndrome, type IV, MIM#614134
- OMIM
- 120210
- Clinvar variants
- Variants in COL9A1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
6 Oct 2020, Gel status: 2
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: col9a1 has been classified as Amber List (Moderate Evidence).
6 Oct 2020, Gel status: 2
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: col9a1 has been classified as Amber List (Moderate Evidence).
6 Oct 2020, Gel status: 0
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Natalie Tan (Victorian Clinical Genetics Services)gene: COL9A1 was added gene: COL9A1 was added to Cataract. Sources: Literature Mode of inheritance for gene: COL9A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COL9A1 were set to PMID: 21421862; 16909383 Phenotypes for gene: COL9A1 were set to Stickler syndrome, type IV, MIM#614134 Review for gene: COL9A1 was set to GREEN