Deafness_IsolatedAndComplex
Gene: TJP2

TJP2 (tight junction protein 2)
EnsemblGeneIds (GRCh38): ENSG00000119139
EnsemblGeneIds (GRCh37): ENSG00000119139
OMIM: 607709, Gene2Phenotype
TJP2 is in 8 panels

2 reviews

Sangavi Sivagnanasundram (Melbourne Health)

Red List (low evidence)

Classified LIMITED by ClinGen hearing Loss GCEP on 19/01/2022 - https://search.clinicalgenome.org/CCID:006375
Created: 6 May 2024, 7:17 a.m. | Last Modified: 6 May 2024, 7:17 a.m.

Panel Version: 1.180

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
nonsyndromic genetic hearing loss MONDO:0019497

Publications

https://search.clinicalgenome.org/CCID:006375

Created: 6 May 2024, 7:17 a.m.
Last Modified: 6 May 2024, 7:17 a.m.
Panel version: 1.180

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Very little evidence for association with deafness. Rare variants identified in large cohorts with little supportive evidence for pathogenicity.
Created: 2 Jan 2020, 5:33 a.m. | Last Modified: 2 Jan 2020, 5:33 a.m.

Panel Version: 0.211

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Deafness

Publications

Created: 2 Jan 2020, 5:33 a.m.
Last Modified: 2 Jan 2020, 5:33 a.m.
Panel version: 0.211

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Red
Melbourne Genomics Health Alliance Deafness Flagship
Victorian Clinical Genetics Services

Phenotypes

Deafness

OMIM

607709

Clinvar variants

Variants in TJP2

Penetrance

None

Publications

Panels with this gene