Rhabdomyolysis and metabolic muscle disorders

Gene: PGK1

Green List (high evidence)

PGK1 (phosphoglycerate kinase 1)
EnsemblGeneIds (GRCh38): ENSG00000102144
EnsemblGeneIds (GRCh37): ENSG00000102144
OMIM: 311800, Gene2Phenotype
PGK1 is in 14 panels

2 reviews

Richard Kirk (Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Foundation Trust)

Green List (high evidence)

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Publications

Variants in this GENE are reported as part of current diagnostic practice

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

History Filter Activity

18 Jul 2017, Gel status: 4

Set publications

Sarah Leigh (Genomics England Curator)

Publications for PGK1 were set to 22348148; 1547346

17 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

4 Jan 2017, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Panel promoted to V1 4th January 2017

5 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

1 Dec 2016, Gel status: 3

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

1 Dec 2016, Gel status: 1

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

1 Dec 2016, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene PGK1 were set to Phosphoglycerate kinase 1 deficiency 300653

24 Nov 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

PGK1 was created by sleigh

24 Nov 2016, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

PGK1 was added to Rhabdomyolysis and metabolic muscle disorderspanel. Sources: UKGTN