Ketotic hypoglycaemia
Gene: PGAM2
PGAM2 (phosphoglycerate mutase 2)
EnsemblGeneIds (GRCh38): ENSG00000164708
EnsemblGeneIds (GRCh37): ENSG00000164708
OMIM: 612931, Gene2Phenotype
PGAM2 is in 7 panels
EnsemblGeneIds (GRCh38): ENSG00000164708
EnsemblGeneIds (GRCh37): ENSG00000164708
OMIM: 612931, Gene2Phenotype
PGAM2 is in 7 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)
Skeltal muscle disease presnts with mylagia and rhabdomyolysisCreated: 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