Deafness_IsolatedAndComplex
Gene: TJP2
Classified LIMITED by ClinGen hearing Loss GCEP on 19/01/2022 - https://search.clinicalgenome.org/CCID:006375Created: 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
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
Gene: tjp2 has been classified as Red List (Low Evidence).
Phenotypes for gene: TJP2 were changed from Deafness to Deafness
Publications for gene: TJP2 were set to 24752540; 20602916; 18616530
Phenotypes for gene: TJP2 were changed from to Deafness
Publications for gene: TJP2 were set to
Mode of inheritance for gene: TJP2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene: tjp2 has been classified as Red List (Low Evidence).
gene: TJP2 was added gene: TJP2 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship Mode of inheritance for gene: TJP2 was set to Unknown