Monogenic hearing loss

Gene: TJP2

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.

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

• 24752540

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.

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

• PMID:10601346
• 11018256
• 12403786
• 12704386
• 18172007
• 18616530
• 20602916
• 24614073
• 25921221
• 7951235
• 8824195

Red List (low evidence)

very few convincing mutations.
Some functional evidence. Overall not strong evidence.

Created: 13 Oct 2015, 8:09 p.m.