Progressive cardiac conduction disease
Gene: ACTN2
ACTN2 (actinin alpha 2)
EnsemblGeneIds (GRCh38): ENSG00000077522
EnsemblGeneIds (GRCh37): ENSG00000077522
OMIM: 102573, Gene2Phenotype
ACTN2 is in 10 panels
EnsemblGeneIds (GRCh38): ENSG00000077522
EnsemblGeneIds (GRCh37): ENSG00000077522
OMIM: 102573, Gene2Phenotype
ACTN2 is in 10 panels
1 review
Ivone Leong (Genomics England Curator)
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
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- NHS GMS
- Expert Review Red
- Phenotypes
-
- Heart conduction disease, MONDO:0000992
- OMIM
- 102573
- Clinvar variants
- Variants in ACTN2
- Penetrance
- None
- Panels with this gene
-
- Hereditary neuropathy
- Hereditary neuropathy or pain disorder
- Dilated and arrhythmogenic cardiomyopathy
- Progressive cardiac conduction disease
- Fetal anomalies
- Congenital myopathy
- Hypertrophic cardiomyopathy
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Dilated Cardiomyopathy and conduction defects
- Paediatric or syndromic cardiomyopathy
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