GJC1

gap junction protein gamma 1
OMIM: 608655, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Amber GJC1 in Congenital Heart Defect


Level 2: Cardiovascular disorders
Version 1.6

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
  • Expert Review Amber
  • Expert Review Amber
  • Literature
Phenotypes
  • atrioventricular block MONDO:0000465, GJC1-related

Amber GJC1 in Mendeliome


Version 2.145

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • atrioventricular block MONDO:0000465, GJC1-related

Amber GJC1 in Oligodontia


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.1

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
  • Literature
Phenotypes
  • atrioventricular block MONDO:0000465, GJC1-related

Amber GJC1 in Cardiac conduction disease


Level 2: Cardiovascular disorders
Version 2.3

Component of the following Super Panels:

  • Adult Cardiac SuperPanel
  • Arrhythmia_SuperPanel
  • 1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    • Literature
    Phenotypes
    • atrioventricular block MONDO:0000465, GJC1-related