Ichthyosis
Gene: GJB2EnsemblGeneIds (GRCh38): ENSG00000165474
EnsemblGeneIds (GRCh37): ENSG00000165474
OMIM: 121011, Gene2Phenotype
GJB2 is in 10 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
Ichthyosis can be prominent feature of some of the conditions caused by this gene. >3 unrelated cases have been reported. Mostly de novo variants have been reported in association with ichthyosis.
Sources: Expert listCreated: 31 Jan 2020, 4:24 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Hystrix-like ichthyosis with deafness MIM#602540; Keratitis-ichthyosis-deafness syndrome MIM#148210
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Hystrix-like ichthyosis with deafness MIM#602540
- Keratitis-ichthyosis-deafness syndrome MIM#148210
- OMIM
- 121011
- Clinvar variants
- Variants in GJB2
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: gjb2 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: gjb2 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: GJB2 was added gene: GJB2 was added to Ichthyosis. Sources: Expert list Mode of inheritance for gene: GJB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GJB2 were set to 11912510 Phenotypes for gene: GJB2 were set to Hystrix-like ichthyosis with deafness MIM#602540; Keratitis-ichthyosis-deafness syndrome MIM#148210 Review for gene: GJB2 was set to GREEN