Dilated Cardiomyopathy and conduction defects
Gene: PRKAG2
PRKAG2 (protein kinase AMP-activated non-catalytic subunit gamma 2)
EnsemblGeneIds (GRCh38): ENSG00000106617
EnsemblGeneIds (GRCh37): ENSG00000106617
OMIM: 602743, Gene2Phenotype
PRKAG2 is in 14 panels
EnsemblGeneIds (GRCh38): ENSG00000106617
EnsemblGeneIds (GRCh37): ENSG00000106617
OMIM: 602743, Gene2Phenotype
PRKAG2 is in 14 panels
2 reviews
Rebecca Whittington (South West GLH)
Cardiomyopathy, hypertrophic 6 OMIM#600858; Glycogen storage disease of heart, lethal congenital OMIM#261740; Wolff-Parkinson-White syndrome OMIM#194200Created: 25 Mar 2019, 4:30 p.m.
Variants mainly assoc with HCM. HGMD: 3 variants assoc with DCM: 1 x Lu 2017 (Lu et al. J Transl Med (2018) 16:241) - VUS using ACMG. 2 x on LMM data(Walsh 2017) one has probably too high freq and also reported in LVNC, other variant no freq.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
Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- South West GLH
- Oxford Medical Genetics Laboratory
- OMIM
- 602743
- Clinvar variants
- Variants in PRKAG2
- Penetrance
- Complete
- Panels with this gene
-
- Fetal anomalies
- Paediatric or syndromic cardiomyopathy
- Likely inborn error of metabolism
- Childhood onset dystonia, chorea or related movement disorder
- Rhabdomyolysis and metabolic muscle disorders
- Progressive cardiac conduction disease
- Hereditary neuropathy or pain disorder
- Hypertrophic cardiomyopathy
- Undiagnosed metabolic disorders
- Ketotic hypoglycaemia
- Dilated Cardiomyopathy and conduction defects
- Glycogen storage disease
- Hereditary neuropathy
- Acute rhabdomyolysis
History Filter Activity
21 Feb 2019, Gel status: 1
Added New Source, Set mode of inheritance
Ellen McDonagh (Genomics England Curator)Source South West GLH was added to PRKAG2. Mode of inheritance for gene PRKAG2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
17 Aug 2017, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)PRKAG2 was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: Oxford Medical Genetics Laboratory
17 Aug 2017, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)PRKAG2 was created by ellenmcdonagh