Ketotic hypoglycaemia
Gene: EPM2A
EPM2A (EPM2A, laforin glucan phosphatase)
EnsemblGeneIds (GRCh38): ENSG00000112425
EnsemblGeneIds (GRCh37): ENSG00000112425
OMIM: 607566, Gene2Phenotype
EPM2A is in 12 panels
EnsemblGeneIds (GRCh38): ENSG00000112425
EnsemblGeneIds (GRCh37): ENSG00000112425
OMIM: 607566, Gene2Phenotype
EPM2A is in 12 panels
2 reviews
Alexander Broomfield (Central Manchester Foundation Trust)
Ellen McDonagh (Genomics England Curator)
Comment when marking as ready: Kept red due to expert review.Created: 8 Jun 2016, 12:22 p.m.
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Red
- UKGTN
- Phenotypes
-
- Glycogen Storage Disease
- OMIM
- 607566
- Clinvar variants
- Variants in EPM2A
- Penetrance
- Complete
- Panels with this gene
-
- Ketotic hypoglycaemia
- Hereditary ataxia
- Glycogen storage disease
- Early onset or syndromic epilepsy
- Undiagnosed metabolic disorders
- Adult onset neurodegenerative disorder
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Hereditary ataxia with onset in adulthood
- Early onset dementia (encompassing fronto-temporal dementia and prion disease)
- Ataxia and cerebellar anomalies - narrow panel
History Filter Activity
8 Jun 2016, Gel status: 1
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
19 Oct 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)EPM2A was added to Ketotic hypoglycaemiapanel. Sources: UKGTN