Ketotic hypoglycaemia
Gene: PGK1
PGK1 (phosphoglycerate kinase 1)
EnsemblGeneIds (GRCh38): ENSG00000102144
EnsemblGeneIds (GRCh37): ENSG00000102144
OMIM: 311800, Gene2Phenotype
PGK1 is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000102144
EnsemblGeneIds (GRCh37): ENSG00000102144
OMIM: 311800, Gene2Phenotype
PGK1 is in 13 panels
2 reviews
Alexander Broomfield (Central Manchester Foundation Trust)
Ellen McDonagh (Genomics England Curator)
Comment when marking as ready: Remains red due to expert review.Created: 8 Jun 2016, 12:40 p.m.
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Red
- UKGTN
- Phenotypes
-
- Glycogen Storage Disease
- OMIM
- 311800
- Clinvar variants
- Variants in PGK1
- Penetrance
- Complete
- Panels with this gene
-
- Retinal disorders
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Rhabdomyolysis and metabolic muscle disorders
- Likely inborn error of metabolism
- Intellectual disability
- Rare anaemia
- Dystonia, chorea or related movement disorder, childhood onset
- Undiagnosed metabolic disorders
- Ketotic hypoglycaemia
- Glycogen storage disease
- DDG2P
- Fetal anomalies
- Acute rhabdomyolysis
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)PGK1 was added to Ketotic hypoglycaemiapanel. Sources: UKGTN