GJA4

gap junction protein alpha 4
OMIM: 121012, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Green GJA4 in Segmental overgrowth disorders - Deep sequencing


Level 2: Dermatology
Version 4.5
Latest signed off version: v4.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
  • Expert list
Phenotypes
  • Cutaneous and hepatic vascular lesions (no OMIM phenotype)
Tags
  • gene-checked
  • recurrent-variant
Green GJA4 in Mosaic skin disorders - deep sequencing


Level 2: Dermatology
Version 3.27
Latest signed off version: v3.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
Phenotypes
  • Cutaneous and hepatic vascular lesions (no OMIM phenotype)
Tags
  • gene-checked
  • recurrent-variant