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Deafness_IsolatedAndComplex
Gene: GJB1

GJB1 (gap junction protein beta 1)
EnsemblGeneIds (GRCh38): ENSG00000169562
EnsemblGeneIds (GRCh37): ENSG00000169562
OMIM: 304040, Gene2Phenotype
GJB1 is in 10 panels

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Although it is not a prominent feature of the condition, sensorineural hearing loss demonstrated by BAEP has been reported in at least 6 unrelated cases, and segregated in multiple individuals in a additional single family (all missense variants reported).
Created: 13 Nov 2020, 3:36 a.m. | Last Modified: 13 Nov 2020, 3:36 a.m.

Panel Version: 0.7

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, MIM#302800

Publications

Created: 13 Nov 2020, 3:36 a.m.
Last Modified: 13 Nov 2020, 3:36 a.m.
Panel version: Imported from Auditory Neuropathy panel version 0.7

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

XLD, deafness is a rare feature.
Created: 2 Jan 2020, 4:21 a.m. | Last Modified: 2 Jan 2020, 4:21 a.m.

Panel Version: 0.193

Mode of inheritance
Other

Phenotypes
Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, MIM#302800

Created: 2 Jan 2020, 4:21 a.m.
Last Modified: 2 Jan 2020, 4:21 a.m.
Panel version: 0.193

Details

Mode of Inheritance

X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Sources

Expert Review Green
Literature
Melbourne Genomics Health Alliance Deafness Flagship
Victorian Clinical Genetics Services

Phenotypes

Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, MIM#302800
MONDO:0010549

OMIM

Clinvar variants

Variants in GJB1

Penetrance

None

Publications

Panels with this gene

History Filter Activity

4 May 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: GJB1 were changed from Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, MIM#302800 to Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, MIM#302800; MONDO:0010549

4 May 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: GJB1 were set to

4 May 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: GJB1 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

4 May 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: GJB1 was changed from Other to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

4 May 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gjb1 has been classified as Green List (High Evidence).

2 Jan 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gjb1 has been classified as Amber List (Moderate Evidence).

2 Jan 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: GJB1 were changed from Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, MIM#302800 to Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, MIM#302800

2 Jan 2020, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: GJB1 was changed from Unknown to Other

2 Jan 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: GJB1 were changed from to Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, MIM#302800

2 Jan 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gjb1 has been classified as Amber List (Moderate Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GJB1 was added gene: GJB1 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: GJB1 was set to Unknown