GJA4

gap junction protein alpha 4
OMIM: 121012, Gene2Phenotype

3 panels

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


Level 2: Dermatology
Version 5.7
Latest signed off version: v5.2 (12 Aug 2026)

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 4.1
Latest signed off version: v4.0 (12 Aug 2026)

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
Red GJA4 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 8.31
Latest signed off version: v8.0 (12 Aug 2026)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Thickened nuchal skin fold, HP:0000474