GJB3

gap junction protein beta 3
OMIM: 603324, ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Red GJB3 in Ichthyosis and Porokeratosis


Level 2: Dermatological disorders
Version 2.0

1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Erythrokeratodermia variabilis et progressiva 1 MIM#133200

Green GJB3 in Mendeliome


Version 2.0

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Erythrokeratodermia variabilis et progressiva 1, MIM# 133200

Green GJB3 in Palmoplantar Keratoderma and Erythrokeratoderma


Level 2: Dermatological disorders
Version 1.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Erythrokeratodermia variabilis et progressiva 1, OMIM #133200

Red GJB3 in Deafness_IsolatedAndComplex


Level 2: Hearing and ear disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Melbourne Genomics Health Alliance Deafness Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Deafness, autosomal dominant 2B, MIM# 612644
Tags
  • disputed

Red GJB3 in Hereditary Neuropathy


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review Not set
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • HMSN
  • erythrokeratodermia variabilis, hearing impairment and peripheral neuropathy