Ketotic hypoglycaemia

Gene: PGAM2

Red List (low evidence)

PGAM2 (phosphoglycerate mutase 2)
EnsemblGeneIds (GRCh38): ENSG00000164708
EnsemblGeneIds (GRCh37): ENSG00000164708
OMIM: 612931, Gene2Phenotype
PGAM2 is in 8 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Demoted from amber to red due to expert review.
Created: 8 Jun 2016, 11:45 a.m.

Alexander Broomfield (Central Manchester Foundation Trust)

Red List (low evidence)

Skeltal muscle disease presnts with mylagia and rhabdomyolysis
Created: 20 Oct 2015, 6:06 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • UKGTN
Phenotypes
  • Glycogen storage disease X, 261670
  • Glycogen Storage Disease Type X
  • Glycogen Storage Disorders- Muscle
  • Glycogen Storage Disease
OMIM
612931
Clinvar variants
Variants in PGAM2
Penetrance
Complete
Panels with this gene

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).

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).

6 Apr 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

19 Oct 2015, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

PGAM2 was added to Ketotic hypoglycaemiapanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,UKGTN