Ichthyosis
Gene: GJB3

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

1 review

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

No clear evidence that ichthyosis is a feature of the condition caused by this gene. There are many negative studies including this gene and cases with ichthyosis. This gene is better suited to the Palmoplantar Keratoderma and Erythrokeratoderma gene panel.
Created: 31 Jan 2020, 4:42 a.m. | Last Modified: 31 Jan 2020, 4:42 a.m.

Panel Version: 0.15

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Erythrokeratodermia variabilis et progressiva 1 MIM#133200

Created: 31 Jan 2020, 4:42 a.m.
Last Modified: 31 Jan 2020, 4:42 a.m.
Panel version: 0.15

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Red
Victorian Clinical Genetics Services

Phenotypes

Erythrokeratodermia variabilis et progressiva 1 MIM#133200

OMIM

603324

Clinvar variants

Variants in GJB3

Penetrance

None

Panels with this gene