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  3. TMPRSS3
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Deafness_IsolatedAndComplex

Gene: TMPRSS3

Green List (high evidence)
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: 0.313

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Deafness Flagship
  • Victorian Clinical Genetics Services
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

27 Feb 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).

27 Feb 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TMPRSS3 were changed from to Deafness, autosomal recessive 8/10, MIM#601072

27 Feb 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TMPRSS3 were set to

27 Feb 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: TMPRSS3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TMPRSS3 was added gene: TMPRSS3 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship Mode of inheritance for gene: TMPRSS3 was set to Unknown