Monogenic hearing loss
Gene: TJP2After 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.
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 OMIMCreated: 17 Feb 2019, 4:35 p.m.
Publications
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.
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
very few convincing mutations.
Some functional evidence. Overall not strong evidence.Created: 13 Oct 2015, 8:09 p.m.
Publications for gene: TJP2 were set to PMID: 10601346; 11018256; 12403786; 12704386; 18172007; 18616530; 20602916; 24614073; 25921221; 7951235; 8824195
This gene has been classified as Red List (Low Evidence).
Phenotypes for TJP2 were set to hearing loss; Nonsyndromic Hearing Loss, Dominant; Cholestasis, progressive familial intrahepatic 4, 615878; Hypercholanemia, familial, 607748
Publications for TJP2 were set to PMID: 10601346; 11018256; 12403786; 12704386; 18172007; 18616530; 20602916; 24614073; 25921221; 7951235; 8824195
This gene has been classified as Red List (Low Evidence).
Model of inheritance for gene TJP2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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
Model of inheritance for gene TJP2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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
Model of inheritance for gene TJP2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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
Model of inheritance for gene TJP2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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
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