Glycogen storage disease
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
1 review
Carol Hardy (West Midlands Regional Genetics Laboratory)
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Phosphoglycerate kinase 1 deficiency 300653
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- NHS GMS
- Wessex and West Midlands GLH
- Expert Review Green
- Phenotypes
-
- Phosphoglycerate kinase 1 deficiency 300653
- OMIM
- 311800
- Clinvar variants
- Variants in PGK1
- Penetrance
- None
- Panels with this gene
-
- Undiagnosed metabolic disorders
- Childhood onset dystonia, chorea or related movement disorder
- Rhabdomyolysis and metabolic muscle disorders
- Retinal disorders
- Likely inborn error of metabolism
- Acute rhabdomyolysis
- DDG2P
- Rare anaemia
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Ketotic hypoglycaemia
- Intellectual disability
- Glycogen storage disease
- Fetal anomalies
History Filter Activity
13 Feb 2019, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: PGK1 was added gene: PGK1 was added to Glycogen storage disease. Sources: Expert Review Green,Wessex and West Midlands GLH,NHS GMS Mode of inheritance for gene: PGK1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: PGK1 were set to Phosphoglycerate kinase 1 deficiency 300653