Deafness_IsolatedAndComplex
Gene: GJB4
GJB4 (gap junction protein beta 4)
EnsemblGeneIds (GRCh38): ENSG00000189433
EnsemblGeneIds (GRCh37): ENSG00000189433
OMIM: 605425, Gene2Phenotype
GJB4 is in 4 panels
EnsemblGeneIds (GRCh38): ENSG00000189433
EnsemblGeneIds (GRCh37): ENSG00000189433
OMIM: 605425, Gene2Phenotype
GJB4 is in 4 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
No convincing evidence of association with deafness identified.Created: 2 Jan 2020, 4:29 a.m. | Last Modified: 2 Jan 2020, 4:29 a.m.
Panel Version: 0.196
Mode of inheritance
Unknown
Phenotypes
Deafness
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Red
- Melbourne Genomics Health Alliance Deafness Flagship
- Victorian Clinical Genetics Services
- Phenotypes
-
- Deafness
- OMIM
- 605425
- Clinvar variants
- Variants in GJB4
- Penetrance
- None
- Panels with this gene
History Filter Activity
9 Oct 2020, Gel status: 1
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: GJB4 were changed from to Deafness
2 Jan 2020, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: gjb4 has been classified as Red List (Low Evidence).
2 Jan 2020, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: gjb4 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: GJB4 was added gene: GJB4 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: GJB4 was set to Unknown