GJB4

gap junction protein beta 4
OMIM: 605425, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Red GJB4 in Ichthyosis


Level 2: Dermatological disorders
Version 1.11

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Erythrokeratodermia variabilis et progressiva 2 MIM#617524

Green GJB4 in Mendeliome


Version 1.1902

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Erythrokeratodermia variabilis et progressiva 2, MIM# 617524

Green GJB4 in Palmoplantar Keratoderma and Erythrokeratoderma


Level 2: Dermatological disorders
Version 0.132

review Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Red GJB4 in Deafness_IsolatedAndComplex


Level 2: Hearing and ear disorders
Version 1.194

review Unknown
Sources
  • Expert Review Red
  • Melbourne Genomics Health Alliance Deafness Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Deafness