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Deafness_IsolatedAndComplex

Gene: GJB4

Red List (low evidence)

GJB4 (gap junction protein beta 4)
EnsemblGeneIds (GRCh38): ENSG00000189433
EnsemblGeneIds (GRCh37): ENSG00000189433
OMIM: 605425, Gene2Phenotype
GJB4 is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

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