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  3. GJB1
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Auditory Neuropathy

Gene: GJB1

Green List (high evidence)
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: 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: Imported from Deafness_IsolatedAndComplex 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
  • Syndromic auditory neuropathy spectrum disorder
OMIM
304040
Clinvar variants
Variants in GJB1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Nov 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

13 Nov 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

13 Nov 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: GJB1 was added gene: GJB1 was added to Auditory Neuropathy. Sources: Literature Mode of inheritance for gene: GJB1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: GJB1 were set to 21176974 Phenotypes for gene: GJB1 were set to Charcot-Marie-Tooth neuropathy, X-linked dominant, 1 MIM#302800; Syndromic auditory neuropathy spectrum disorder