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  2. Likely inborn error of metabolism
  3. PGAM2
Genes in panel
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Likely inborn error of metabolism

Gene: PGAM2

Green List (high evidence)
PGAM2 (phosphoglycerate mutase 2)
EnsemblGeneIds (GRCh38): ENSG00000164708
EnsemblGeneIds (GRCh37): ENSG00000164708
OMIM: 612931, Gene2Phenotype
PGAM2 is in 7 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Comment on list classification: Associated with phenotype in OMIM and not in Gen2Phen. At least 4 variants identified in 3 unrelated cases.
Created: 24 Jul 2019, 4:49 p.m. | Last Modified: 24 Jul 2019, 4:49 p.m.
Panel Version: 1.70
Comment on list classification: Associated with phenotype in OMIM and not in Gen2Phen. At least 4 variants identified in 3 unrelated cases.
Created: 24 Jul 2019, 4:48 p.m. | Last Modified: 24 Jul 2019, 4:48 p.m.
Panel Version: 1.70
Created: 24 Jul 2019, 4:48 p.m.
Last Modified: 24 Jul 2019, 4:48 p.m.
Panel version: 1.70

Arianna Tucci (Genomics England Curator)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Rhabdomyolysis and metabolic muscle disorders

Publications

Created: 13 Jan 2017, 4:13 p.m.

Panel version: Imported from Undiagnosed metabolic disorders panel version 0.76

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Glycogen storage disease X 261670
OMIM
612931
Clinvar variants
Variants in PGAM2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Jul 2019, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: pgam2 has been classified as Green List (High Evidence).

24 Jul 2019, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: pgam2 has been classified as Green List (High Evidence).

24 Jul 2019, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: PGAM2 were set to 27604308

24 Jul 2019, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: PGAM2 were changed from Glycogen storage disease type X (Glycogen storage disorders); Rhabdomyolysis and metabolic muscle disorders to Glycogen storage disease X 261670

13 Feb 2019, Gel status: 2

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to PGAM2. Source London North GLH was added to PGAM2.

8 Jan 2019, Gel status: 2

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with relevant pheno

16 Dec 2018, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: PGAM2 was added gene: PGAM2 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: PGAM2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PGAM2 were set to 27604308 Phenotypes for gene: PGAM2 were set to Glycogen storage disease type X (Glycogen storage disorders); Rhabdomyolysis and metabolic muscle disorders