Rhabdomyolysis and metabolic muscle disorders
Gene: PGK1EnsemblGeneIds (GRCh38): ENSG00000102144
EnsemblGeneIds (GRCh37): ENSG00000102144
OMIM: 311800, Gene2Phenotype
PGK1 is in 13 panels
2 reviews
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotype in OMIM and as a confirmed Developmental Disorder Gene / G2P. At least 15 variants reported.Created: 5 Dec 2016, 11:11 a.m.
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Green
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- UKGTN
- Phenotypes
-
- Phosphoglycerate kinase 1 deficiency 300653
- OMIM
- 311800
- Clinvar variants
- Variants in PGK1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Undiagnosed metabolic disorders
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Rhabdomyolysis and metabolic muscle disorders
- Likely inborn error of metabolism
- Acute rhabdomyolysis
- Retinal disorders
- DDG2P
- Fetal anomalies
- Rare anaemia
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Ketotic hypoglycaemia
- Glycogen storage disease
History Filter Activity
Set publications
Sarah Leigh (Genomics England Curator)Publications for PGK1 were set to 22348148; 1547346
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Panel promoted to V1 4th January 2017
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Upload gene information
Sarah Leigh (Genomics England Curator)PGK1 was added to Rhabdomyolysis and metabolic muscle disorderspanel. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory
Set Mode of Inheritance
Sarah Leigh (Genomics England Curator)Model of inheritance for gene PGK1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene PGK1 were set to Phosphoglycerate kinase 1 deficiency 300653
Created
Sarah Leigh (Genomics England Curator)PGK1 was created by sleigh
Added New Source
Sarah Leigh (Genomics England Curator)PGK1 was added to Rhabdomyolysis and metabolic muscle disorderspanel. Sources: UKGTN