Palmoplantar Keratoderma and Erythrokeratoderma

Gene: GJB4

Green List (high evidence)

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

0 reviews

Details

Mode of Inheritance
Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
OMIM
605425
Clinvar variants
Variants in GJB4
Penetrance
None
Panels with this gene

History Filter Activity

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 Palmoplantar keratoderma and erythrokeratoderma_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: GJB4 was set to Unknown