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Inborn errors 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

Arianna Tucci (Genomics England Curator)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Rhabdomyolysis and metabolic muscle disorders

Publications

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