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Hearing loss

Gene: TJP2

Red List (low evidence)

TJP2 (tight junction protein 2)
EnsemblGeneIds (GRCh38): ENSG00000119139
EnsemblGeneIds (GRCh37): ENSG00000119139
OMIM: 607709, Gene2Phenotype
TJP2 is in 4 panels

5 reviews

Eleanor Williams (Genomics England Curator)

After review with the NHS GMS hearing specialist group on 2019-02-13 it was decided to keep this gene red.
Created: 27 Feb 2019, 10:35 a.m.

Emma Ashton (Great Ormond Street Hospital)

I don't know

Kim et al 2014 PMID 24752540 report two heterozygous missense variants in Korean patients with NSHL. Main association for this gene seems to be hypercholanaemia/intrahepatic cholestasis, no association with HL on OMIM
Created: 17 Feb 2019, 4:35 p.m.

Publications

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Both reviewers suggest this gene should be demoted from green to red. Little evidence in OMIM for a confirmed association between variants within this gene and deafness: PMID: 20602916 hypothesized that overexpression of TJP2 may result in progressive hearing loss. PMID: 18616530 reports a mutation in TJP2 in a family with autosomal dominant nonsyndromic hearing loss, but that this variant could not conclusively be shown to be the causative variant.
Created: 22 Feb 2016, 6:25 p.m.

Jun Shen (Harvard Medical School)

Red List (low evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
#607748:Hypercholanemia, familial[<omim version=1.0><clinicalSynopsisList>]; #615878:Cholestasis, progressive familial intrahepatic 4[Intrahepatic cholestasisLiver failurePortal hypertensionElongated tight junctions between adjacent hepatocytes and biliary canaliculi seen on biopsy; Hepatocellular carcinoma, childhood onset (reported in 2 patients); Normal or mildly increased serum gamma-glutamyltransferase (GGT)]

Publications

Maria Bitner-Glindzicz (UCL)

Red List (low evidence)

very few convincing mutations.
Some functional evidence. Overall not strong evidence.
Created: 13 Oct 2015, 8:09 p.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Expert
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • hearing loss
  • Nonsyndromic Hearing Loss, Dominant
  • Cholestasis, progressive familial intrahepatic 4, 615878
  • Hypercholanemia, familial, 607748
OMIM
607709
Clinvar variants
Variants in TJP2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

1 May 2019, Gel status: 1

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: TJP2 were set to PMID: 10601346; 11018256; 12403786; 12704386; 18172007; 18616530; 20602916; 24614073; 25921221; 7951235; 8824195

22 Feb 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

22 Feb 2016, Gel status: 1

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for TJP2 were set to hearing loss; Nonsyndromic Hearing Loss, Dominant; Cholestasis, progressive familial intrahepatic 4, 615878; Hypercholanemia, familial, 607748

22 Feb 2016, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for TJP2 were set to PMID: 10601346; 11018256; 12403786; 12704386; 18172007; 18616530; 20602916; 24614073; 25921221; 7951235; 8824195

22 Feb 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

24 Jun 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene TJP2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

24 Jun 2015, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

TJP2 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 TJP2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

24 Jun 2015, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

TJP2 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 TJP2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

24 Jun 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

TJP2 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 TJP2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

24 Jun 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

TJP2 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)

TJP2 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