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  3. GJB4
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Ichthyosis

Gene: GJB4

Red List (low evidence)
GJB4 (gap junction protein beta 4)
EnsemblGeneIds (GRCh38): ENSG00000189433
EnsemblGeneIds (GRCh37): ENSG00000189433
OMIM: 605425, Gene2Phenotype
GJB4 is in 4 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, 4:48 a.m. | Last Modified: 31 Jan 2020, 4:48 a.m.
Panel Version: 0.15

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Erythrokeratodermia variabilis et progressiva 2 MIM#617524

Created: 31 Jan 2020, 4:48 a.m.
Last Modified: 31 Jan 2020, 4:48 a.m.
Panel version: 0.15

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Erythrokeratodermia variabilis et progressiva 2 MIM#617524
OMIM
605425
Clinvar variants
Variants in GJB4
Penetrance
None
Panels with this gene

History Filter Activity

31 Jan 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gjb4 has been classified as Red List (Low Evidence).

31 Jan 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: GJB4 were changed from to Erythrokeratodermia variabilis et progressiva 2 MIM#617524

31 Jan 2020, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: GJB4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

31 Jan 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gjb4 has been classified as Red List (Low Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GJB4 was added gene: GJB4 was added to Ichthyosis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: GJB4 was set to Unknown