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Hearing loss

Gene: TMPRSS3

Green List (high evidence)

TMPRSS3 (transmembrane protease, serine 3)
EnsemblGeneIds (GRCh38): ENSG00000160183
EnsemblGeneIds (GRCh37): ENSG00000160183
OMIM: 605511, Gene2Phenotype
TMPRSS3 is in 1 panel

5 reviews

Ellen McDonagh (Genomics England Curator)

New review confirms gene status and mode of inheritance; no changes required.
Created: 1 Jun 2018, 2:38 p.m.

Lampros Mavrogiannis (Leeds Genetics Laboratory)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Maria Bitner-Glindzicz (UCL)

Green List (high evidence)

Jun Shen (Harvard Medical School)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
#601072:Deafness, autosomal recessive 8/10[Neurosensory deafness; Childhood onset]

Publications

Damian Smedley (Genomics England Curator)

Comment when marking as ready: Expert review and OMIM confirmed
Created: 29 Jan 2016, 5:24 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Nonsyndromic Hearing Loss, Recessive
  • Deafness, autosomal recessive 8/10, 601072
  • hearing loss
OMIM
605511
Clinvar variants
Variants in TMPRSS3
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

23 Feb 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for TMPRSS3 were set to PMID: 11137999; 11424922; 11462234; 11907649; 12393794; 12920079; 16021470; 21454591; 23255163

29 Jan 2016, Gel status: 4

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

24 Jun 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene TMPRSS3 was changed to BIALLELIC, autosomal or pseudoautosomal

24 Jun 2015, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

TMPRSS3 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert

24 Jun 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene TMPRSS3 was changed to BIALLELIC, autosomal or pseudoautosomal

24 Jun 2015, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

TMPRSS3 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert

24 Jun 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene TMPRSS3 was changed to BIALLELIC, autosomal or pseudoautosomal

24 Jun 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

TMPRSS3 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert

24 Jun 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene TMPRSS3 was changed to BIALLELIC, autosomal or pseudoautosomal

24 Jun 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

TMPRSS3 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

TMPRSS3 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert