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  3. COL9A1
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Deafness_Isolated

Gene: COL9A1

Green List (high evidence)
COL9A1 (collagen type IX alpha 1 chain)
EnsemblGeneIds (GRCh38): ENSG00000112280
EnsemblGeneIds (GRCh37): ENSG00000112280
OMIM: 120210, Gene2Phenotype
COL9A1 is in 12 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

At least three families reported.
Created: 29 Jan 2020, 12:31 a.m. | Last Modified: 29 Jan 2020, 12:31 a.m.
Panel Version: 0.272

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Stickler syndrome, type IV, MIM#614134

Created: 29 Jan 2020, 12:31 a.m.
Last Modified: 29 Jan 2020, 12:31 a.m.
Panel version: Imported from Deafness_IsolatedAndComplex panel version 0.272

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 IV, MIM#614134
OMIM
120210
Clinvar variants
Variants in COL9A1
Penetrance
None
Panels with this gene

History Filter Activity

3 Oct 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: col9a1 has been classified as Green List (High Evidence).

21 Jul 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: COL9A1 was added gene: COL9A1 was added to DeafnessIsolated. Sources: Melbourne Genomics Health Alliance Deafness Flagship,Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: COL9A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COL9A1 were set to Stickler syndrome, type IV, MIM#614134