GJA4

gap junction protein alpha 4
OMIM: 121012, Gene2Phenotype

2 panels

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


Version 3.17
Latest signed off version: v3.3 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Cutaneous and hepatic vascular lesions (no OMIM phenotype)
Tags
  • Q3_23_promote_green
  • recurrent-variant
Amber GJA4 in Mosaic skin disorders - deep sequencing


Version 2.47
Latest signed off version: v2.0 (30 Nov 2022)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Cutaneous and hepatic vascular lesions (no OMIM phenotype)
Tags
  • Q3_23_promote_green
  • Q3_23_NHS_review
  • recurrent-variant