Progressive cardiac conduction disease

Gene: ACTN2

Red List (low evidence)

ACTN2 (actinin alpha 2)
EnsemblGeneIds (GRCh38): ENSG00000077522
EnsemblGeneIds (GRCh37): ENSG00000077522
OMIM: 102573, Gene2Phenotype
ACTN2 is in 9 panels

1 review

Ivone Leong (Genomics England Curator)

Red List (low evidence)

New gene 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

History Filter Activity

2 Mar 2021, Gel status: 1

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: ACTN2 were changed from to Heart conduction disease, MONDO:0000992

2 Dec 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Ivone Leong (Genomics England Curator)

gene: ACTN2 was added gene: ACTN2 was added to Progressive cardiac conduction disease. Sources: Expert Review Red,NHS GMS Mode of inheritance for gene: ACTN2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown