Progressive cardiac conduction disease
Gene: GJA5
Comment on phenotypes: This gene is also associated with Atrial fibrillation, familial, 11 614049; Atrial standstill, digenic (GJA5/SCN5A) 108770Created: 2 Mar 2021, 3:55 p.m. | Last Modified: 2 Mar 2021, 3:55 p.m.
Panel Version: 1.33
Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Red on this panel.Created: 2 Dec 2019, 10:38 a.m. | Last Modified: 2 Dec 2019, 10:38 a.m.
Panel Version: 0.30
Limited literature associating GJA5 with conduction disease.Created: 2 Oct 2019, 10:03 a.m. | Last Modified: 2 Oct 2019, 10:03 a.m.
Panel Version: 0.28
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Atrial fibrillation, familial, 11 614049; Atrial standstill, digenic (GJA5/SCN5A) 108770
Publications
Atrial fibrillation, familial, 11 (614049), Atrial standstill, digenic (GJA5/SCN5A) (108770)Created: 25 Mar 2019, 4:30 p.m.
Pubmed: 25426816. Connexin. Involved in the normal propagation of the electrical impulse in the specialized cardiac conduction system. 1 family with variant and familial heart block.Created: 25 Mar 2019, 4:27 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: GJA5 were changed from to Heart conduction disease, MONDO:0000992
Publications for gene: GJA5 were set to
gene: GJA5 was added gene: GJA5 was added to Progressive cardiac conduction disease. Sources: South West GLH Mode of inheritance for gene: GJA5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted