Deafness_Isolated
Gene: TMC1

TMC1 (transmembrane channel like 1)
EnsemblGeneIds (GRCh38): ENSG00000165091
EnsemblGeneIds (GRCh37): ENSG00000165091
OMIM: 606706, Gene2Phenotype
TMC1 is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Association between mono-allelic and bi-allelic variants and deafness both have multiple families reported, supportive mouse models, and are rated DEFINITIVE by ClinGen.
Created: 3 Oct 2020, 3:01 a.m. | Last Modified: 3 Oct 2020, 3:01 a.m.

Panel Version: 0.574

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Deafness, autosomal dominant 36, MIM# 606705; Deafness, autosomal recessive 7, MIM# 600974

Publications

Created: 3 Oct 2020, 3:01 a.m.
Last Modified: 3 Oct 2020, 3:01 a.m.
Panel version: Imported from Deafness_IsolatedAndComplex panel version 0.574

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 36, MIM# 606705
Deafness, autosomal recessive 7, MIM# 600974

OMIM

606706

Clinvar variants

Variants in TMC1

Penetrance

None

Publications

Panels with this gene