This Panel is marked as Internal
Genomic imprinting
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
1 review
Sarah Leigh (Genomics England Curator)
Circadian expression reported in CircaDB (http://circadb.hogeneschlab.org/human)Created: 22 Dec 2020, 6:10 p.m. | Last Modified: 22 Dec 2020, 6:10 p.m.
Panel Version: 0.26
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
- Sources
-
- Literature
- OMIM
- 602743
- Clinvar variants
- Variants in PRKAG2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Rhabdomyolysis and metabolic muscle disorders
- Likely inborn error of metabolism
- Acute rhabdomyolysis
- Hereditary neuropathy
- Progressive cardiac conduction disease
- Hypertrophic cardiomyopathy
- Ketotic hypoglycaemia
- Dilated Cardiomyopathy and conduction defects
- Paediatric or syndromic cardiomyopathy
- Glycogen storage disease
- Fetal anomalies
- Hereditary neuropathy or pain disorder
- Undiagnosed metabolic disorders
History Filter Activity
22 Dec 2020, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications
Sarah Leigh (Genomics England Curator)gene: PRKAG2 was added gene: PRKAG2 was added to Imprinted Genes. Sources: Literature Mode of inheritance for gene: PRKAG2 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) Publications for gene: PRKAG2 were set to 30794780; 27843122