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This Panel is marked as Internal
Autosomal dominant deafness
Gene: GJB2
GJB2 (gap junction protein beta 2)
EnsemblGeneIds (GRCh38): ENSG00000165474
EnsemblGeneIds (GRCh37): ENSG00000165474
OMIM: 121011, Gene2Phenotype
GJB2 is in 11 panels
EnsemblGeneIds (GRCh38): ENSG00000165474
EnsemblGeneIds (GRCh37): ENSG00000165474
OMIM: 121011, Gene2Phenotype
GJB2 is in 11 panels
1 review
Ellen McDonagh (Genomics England Curator)
Mode of inheritance and phenotypes sourced from OMIM.Created: 11 Jan 2016, 9:53 a.m.
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Other
- Eligibility statement prior genetic testing
- OMIM
- 121011
- Clinvar variants
- Variants in GJB2
- Penetrance
- Complete
- Panels with this gene
-
- Ectodermal dysplasia
- Familial hidradenitis suppurativa
- Palmoplantar keratoderma and erythrokeratodermas
- Ichthyosis and erythrokeratoderma
- Familial cicatricial alopecia
- Palmoplantar keratodermas
- DDG2P
- Ectodermal dysplasia without a known gene mutation
- Monogenic hearing loss
- Intellectual disability
- Fetal anomalies
History Filter Activity
11 Jan 2016, Gel status: 0
Upload gene information
Ellen McDonagh (Genomics England Curator)GJB2 was added to Autosomal dominant deafnesspanel. Sources: Other
11 Jan 2016, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)GJB2 was added to Autosomal dominant deafnesspanel. Sources: Eligibility statement prior genetic testing
11 Jan 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)GJB2 was created by ellenmcdonagh