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Progressive cardiac conduction disease

Gene: GJA5

Red List (low evidence)
GJA5 (gap junction protein alpha 5)
EnsemblGeneIds (GRCh38): ENSG00000265107
EnsemblGeneIds (GRCh37): ENSG00000143140
OMIM: 121013, Gene2Phenotype
GJA5 is in 1 panel

3 reviews

Ivone Leong (Genomics England Curator)

Red List (low evidence)

Comment on phenotypes: This gene is also associated with Atrial fibrillation, familial, 11 614049; Atrial standstill, digenic (GJA5/SCN5A) 108770
Created: 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
Created: 2 Dec 2019, 10:38 a.m.
Last Modified: 2 Dec 2019, 10:38 a.m.
Panel version: 0.30

James Eden (Manchester)

Red List (low evidence)

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

Created: 2 Oct 2019, 10:03 a.m.
Last Modified: 2 Oct 2019, 10:03 a.m.
Panel version: 0.28

Rebecca Whittington (South West GLH)

I don't know

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

Created: 25 Mar 2019, 4:24 p.m.

Panel version: 0.18

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • South West GLH
Phenotypes
  • Heart conduction disease, MONDO:0000992
OMIM
121013
Clinvar variants
Variants in GJA5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Mar 2021, Gel status: 1

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: GJA5 were changed from to Heart conduction disease, MONDO:0000992

2 Mar 2021, Gel status: 1

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: GJA5 were set to

21 Feb 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

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