GJA1 gap junction protein alpha 1

Gene info

Synonyms

oculodentodigital dysplasia (syndactyly type III)|connexin 43

Previous symbol

ODDD|GJAL

External ID

HGNC: 4274
Entrez Gene: 2697
Ensembl: ENSG00000152661
UCSC: uc003pyr.4
OMIM: 121014
UniProtKB: P17302

Disease info

Disease

CHD Phenotype

  • Ventricular septal defect
  • Pulmonary atresia
  • Tricuspid stenosis
  • Hypoplastic rv
  • Hypoplastic left heart syndrome

Extra Cardiac Phenotype

None

Incomplete penetrance

Unknown

Variable expressivity

Unknown

Animal model

Mouse study

MGI: Homozygous knockout mouse has CHD

MGI ID

95713

Variant info

Clinvar

GJA1

Selected variant

The Clinvar variants presented in the below IGV track were selected based on the following criteria.

  1. Variant types are single nucleotide variant or Indel
  2. Clinical significance for the variant was assessed to be Pathogenic or Likely Pathogenic
  3. ClinVar review status for the variant is criteria provided

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Selected References

  1. Dasgupta, C., Martinez, A.-M., Zuppan, C. W., Shah, M. M., Bailey, L. L., & Fletcher, W. H. (2001). Identification of connexin43 (α1) gap junction gene mutations in patients with hypoplastic left heart syndrome by denaturing gradient gel electrophoresis (DGGE). Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis, 479(1–2), 173–186. https://doi.org/10.1016/s0027-5107(01)00160-9 DOI:10.1016/S0027-5107(01)00160-9
  2. Britz-Cunningham, S. H., Shah, M. M., Zuppan, C. W., & Fletcher, W. H. (1995). Mutations of theConnexin43Gap-Junction Gene in Patients with Heart Malformations and Defects of Laterality. New England Journal of Medicine, 332(20), 1323–1330. https://doi.org/10.1056/nejm199505183322002 DOI:10.1056/NEJM199505183322002 PMID:7715640