Paediatric or syndromic cardiomyopathy
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
2 reviews
Ivone Leong (Genomics England Curator)
Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.Created: 2 Dec 2019, 3:58 p.m. | Last Modified: 2 Dec 2019, 3:58 p.m.
Panel Version: 0.16
Rebecca Whittington (South West GLH)
OMIM#612158: Cardiomyopathy, dilated 1AA with or without LVNC and Cardiomyopathy, hypertrophic, 23, with or without LVNCCreated: 25 Mar 2019, 4:30 p.m.
11 variants on HGMD assoc with DCM - 5 classed as DM in a number of literature reviews. In reviews: Dalin 2017 International Journal of Cardiology 228 (2017) 742748, Hershberger 2013 Nat Rev Cardiol 10:531 and Pugh (2014) Genet Med 16, 601 - reported in an infant with DCM. Experience of paedatric cardiomyopathy in labCreated: 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
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- NHS GMS
- South West GLH
- London South GLH
- Expert Review Green
- Phenotypes
-
- Dilated Cardiomyopathy, Dominant
- 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
- Congenital myopathy
- Hypertrophic cardiomyopathy
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Dilated Cardiomyopathy and conduction defects
- Paediatric or syndromic cardiomyopathy
- Fetal anomalies
History Filter Activity
2 Dec 2019, Gel status: 3
Added New Source
Ivone Leong (Genomics England Curator)Source NHS GMS was added to ACTN2.
4 Sep 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: ACTN2 was added gene: ACTN2 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,London South GLH,South West GLH Mode of inheritance for gene: ACTN2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ACTN2 were set to Dilated Cardiomyopathy, Dominant