Rhabdomyolysis and Metabolic Myopathy
Gene: PGAM2EnsemblGeneIds (GRCh38): ENSG00000164708
EnsemblGeneIds (GRCh37): ENSG00000164708
OMIM: 612931, Gene2Phenotype
PGAM2 is in 3 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Established gene-disease association, more than 5 families reported.Created: 27 Apr 2022, 8:51 a.m. | Last Modified: 27 Apr 2022, 8:51 a.m.
Panel Version: 0.13405
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glycogen storage disease X, MIM# 261670
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Royal Melbourne Hospital
- Victorian Clinical Genetics Services
- Phenotypes
-
- Glycogen storage disease X, MIM# 261670
- OMIM
- 612931
- Clinvar variants
- Variants in PGAM2
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: pgam2 has been classified as Green List (High Evidence).
Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)Phenotypes for gene: PGAM2 were changed from Glycogen storage disease X 261670 to Glycogen storage disease X, MIM# 261670
Set publications
Bryony Thompson (Royal Melbourne Hospital)Publications for gene: PGAM2 were set to
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: PGAM2 was added gene: PGAM2 was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: PGAM2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PGAM2 were set to Glycogen storage disease X 261670