Deafness_Isolated
Gene: TMPRSS3

TMPRSS3 (transmembrane protease, serine 3)
EnsemblGeneIds (GRCh38): ENSG00000160183
EnsemblGeneIds (GRCh37): ENSG00000160183
OMIM: 605511, Gene2Phenotype
TMPRSS3 is in 5 panels

1 review

Chern Lim (Victorian Clinical Genetics Services)

Green List (high evidence)

Well-reported disease gene for non-syndromic hearing loss.
Created: 25 Feb 2020, 11:08 p.m. | Last Modified: 25 Feb 2020, 11:08 p.m.

Panel Version: 0.313

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Deafness, autosomal recessive 8/10, MIM#601072

Publications

Created: 25 Feb 2020, 11:08 p.m.
Last Modified: 25 Feb 2020, 11:08 p.m.
Panel version: Imported from Deafness_IsolatedAndComplex panel version 0.313

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

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

Phenotypes

Deafness, autosomal recessive 8/10, MIM#601072

OMIM

605511

Clinvar variants

Variants in TMPRSS3

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: tmprss3 has been classified as Green List (High Evidence).

21 Jul 2020, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TMPRSS3 was added gene: TMPRSS3 was added to DeafnessIsolated. Sources: Melbourne Genomics Health Alliance Deafness Flagship,Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TMPRSS3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMPRSS3 were set to 21786053; 17551081 Phenotypes for gene: TMPRSS3 were set to Deafness, autosomal recessive 8/10, MIM#601072

Deafness_Isolated Gene: TMPRSS3