Pigmentary skin disorders

Gene: GJB4

Green List (high evidence)

GJB4 (gap junction protein beta 4)
EnsemblGeneIds (GRCh38): ENSG00000189433
EnsemblGeneIds (GRCh37): ENSG00000189433
OMIM: 605425, Gene2Phenotype
GJB4 is in 5 panels

2 reviews

Tom Cullup (Great Ormond Street Hospital)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 2; EKVP2

Publications

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

This gene was part of an initial gene list collated by Thomas Cullup, GOSH and Veronica Kinsler, UCL, 25.Jan.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted: GJB4; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.
Created: 31 Jan 2019, 11:31 a.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
Phenotypes
  • Erythrokeratodermia variabilis
  • EKVP2
  • ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 2
OMIM
605425
Clinvar variants
Variants in GJB4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Dec 2019, Gel status: 3

Set mode of inheritance, Set Phenotypes, Set publications

Catherine Snow (Genomics England)

Mode of inheritance for gene GJB4 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes EKVP2; ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 2 for gene: GJB4 Publications for gene GJB4 were changed from to 12648223

18 Feb 2019, Gel status: 4

Added New Source

Rebecca Foulger (Genomics England curator)

Source London North GLH was added to GJB4.

31 Jan 2019, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: GJB4 was added gene: GJB4 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: GJB4 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: GJB4 were set to Erythrokeratodermia variabilis