1. Panels
  2. Deafness_Isolated
  3. COCH
STRs in panel
Prev Next
Regions in panel
Prev Next

Deafness_Isolated

Gene: COCH

Green List (high evidence)
COCH (cochlin)
EnsemblGeneIds (GRCh38): ENSG00000100473
EnsemblGeneIds (GRCh37): ENSG00000100473
OMIM: 603196, Gene2Phenotype
COCH is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mono-allelic variants: Over 50 affected individuals from more than 10 families reported, mouse model. Dominant negative effect postulated.

Bi-allelic variants: three families reported with bi-allelic variants in this gene and deafness. All variants are LOF, some functional data. PMIDs 29449721, 32939038, 32562050.
Created: 28 Sep 2020, 8:26 p.m. | Last Modified: 29 Sep 2020, 9:45 p.m.
Panel Version: 0.470

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Deafness, autosomal dominant 9, MIM# 601369; Deafness, autosomal recessive 110, MIM# 618094

Publications

Created: 28 Sep 2020, 8:26 p.m.
Last Modified: 29 Sep 2020, 9:45 p.m.
Panel version: Imported from Deafness_IsolatedAndComplex panel version 0.470

Details

Mode of Inheritance
BOTH monoallelic and 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
  • Deafness, autosomal dominant 9, MIM# 601369
  • Deafness, autosomal recessive 110, MIM# 618094
OMIM
603196
Clinvar variants
Variants in COCH
Penetrance
None
Publications
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: coch has been classified as Green List (High Evidence).

3 Oct 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: COCH were changed from Non syndromic deafness to Deafness, autosomal dominant 9, MIM# 601369; Deafness, autosomal recessive 110, MIM# 618094

3 Oct 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: COCH were set to

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: COCH was added gene: COCH was added to DeafnessIsolated. Sources: Melbourne Genomics Health Alliance Deafness Flagship,Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: COCH was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: COCH were set to Non syndromic deafness