Deafness_Isolated
Gene: COL9A2

COL9A2 (collagen type IX alpha 2 chain)
EnsemblGeneIds (GRCh38): ENSG00000049089
EnsemblGeneIds (GRCh37): ENSG00000049089
OMIM: 120260, Gene2Phenotype
COL9A2 is in 13 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Bi-allelic variants have been associated with Stickler syndrome (incl SNHL) in three unrelated families. Association is supported by multiple animal models. Assessed as LIMITED by ClinGen but this was prior to PMID 31090205.
Created: 28 Sep 2020, 8:59 p.m. | Last Modified: 28 Sep 2020, 8:59 p.m.

Panel Version: 0.440

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Stickler syndrome, type V, MIM# 614284

Publications

Created: 28 Sep 2020, 8:59 p.m.
Last Modified: 28 Sep 2020, 8:59 p.m.
Panel version: Imported from Deafness_IsolatedAndComplex panel version 0.440

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services
Melbourne Genomics Health Alliance Deafness Flagship
Melbourne Genomics Health Alliance Deafness Flagship
Victorian Clinical Genetics Services

Phenotypes

Stickler syndrome, type V, MIM# 614284

OMIM

120260

Clinvar variants

Variants in COL9A2

Penetrance

None

Publications

Panels with this gene