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Deafness_IsolatedAndComplex

Gene: TJP2

Red List (low evidence)

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

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

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

History Filter Activity

2 Jan 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tjp2 has been classified as Red List (Low Evidence).

2 Jan 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TJP2 were changed from Deafness to Deafness

2 Jan 2020, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TJP2 were set to 24752540; 20602916; 18616530

2 Jan 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TJP2 were changed from to Deafness

2 Jan 2020, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TJP2 were set to

2 Jan 2020, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: TJP2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

2 Jan 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tjp2 has been classified as Red List (Low Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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