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Deafness_IsolatedAndComplex
Gene: GJB3

GJB3 (gap junction protein beta 3)
EnsemblGeneIds (GRCh38): ENSG00000188910
EnsemblGeneIds (GRCh37): ENSG00000188910
OMIM: 603324, Gene2Phenotype
GJB3 is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Association with AD deafness has been disputed as the variants originally reported are present at high frequency in the population. ClinGen assessed as DISPUTED.
Created: 31 Dec 2019, 1:04 a.m. | Last Modified: 31 Dec 2019, 1:04 a.m.

Panel Version: 0.61

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Deafness, autosomal dominant 2B, MIM# 612644

Publications

9843210

Created: 31 Dec 2019, 1:04 a.m.
Last Modified: 31 Dec 2019, 1:04 a.m.
Panel version: 0.61

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, autosomal dominant 2B, MIM# 612644

OMIM

Clinvar variants

Variants in GJB3

Penetrance

None

Publications

9843210

Panels with this gene

History Filter Activity

31 Dec 2019, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: GJB3 were changed from Deafness, autosomal dominant 2B, MIM# 612644 to Deafness, autosomal dominant 2B, MIM# 612644

31 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gjb3 has been classified as Red List (Low Evidence).

31 Dec 2019, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: GJB3 were set to 9843210

31 Dec 2019, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: GJB3 were changed from to Deafness, autosomal dominant 2B, MIM# 612644

31 Dec 2019, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: GJB3 were set to

31 Dec 2019, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: GJB3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

31 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gjb3 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: GJB3 was added gene: GJB3 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: GJB3 was set to Unknown