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  2. Glycogen storage disease
  3. PGAM2
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Glycogen storage disease

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

Emma Ashton (Great Ormond Street Hospital)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 13 Feb 2019, 1:09 p.m.

Panel version: 0.3

Carol Hardy (West Midlands Regional Genetics Laboratory)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Glycogen storage disease X 261670

Variants in this GENE are reported as part of current diagnostic practice

Created: 13 Feb 2019, 1:09 p.m.

Panel version: 0.3

Details

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

History Filter Activity

13 Feb 2019, Gel status: 4

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

Ivone Leong (Genomics England Curator)

gene: PGAM2 was added gene: PGAM2 was added to Glycogen storage disease. Sources: Expert Review Green,London North GLH,Wessex and West Midlands GLH,NHS GMS 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