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STRs in panel
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Inborn errors of metabolism

Gene: PGM1

Green List (high evidence)

PGM1 (phosphoglucomutase 1)
EnsemblGeneIds (GRCh38): ENSG00000079739
EnsemblGeneIds (GRCh37): ENSG00000079739
OMIM: 171900, Gene2Phenotype
PGM1 is in 12 panels

1 review

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
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Glycogen Storage Disease
  • Congenital disorder of deglycosylation 615273
  • Glycogen storage disease type XIV (Glycogen storage disorders)
  • Congenital disorder of glycosylation, type It, 614921
  • Glycogen Storage Disorders- Muscle
  • Glycogen Storage Disease Type XIV
  • Glycogen storage disease XIV, 612934
OMIM
171900
Clinvar variants
Variants in PGM1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Feb 2019, Gel status: 4

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to PGM1. Source London North GLH was added to PGM1.

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Ellen McDonagh: Comment on mode of pathogenici

16 Dec 2018, Gel status: 4

Set Phenotypes, Set publications

Ellen McDonagh (Genomics England Curator)

Added phenotypes Congenital disorder of deglycosylation 615273 for gene: PGM1 Publications for gene PGM1 were changed from 27604308 to 27206562

16 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: PGM1 was added gene: PGM1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PGM1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PGM1 were set to 27604308 Phenotypes for gene: PGM1 were set to Glycogen Storage Disease; Congenital disorder of deglycosylation 615273; Glycogen storage disease type XIV (Glycogen storage disorders); Congenital disorder of glycosylation, type It, 614921; Glycogen Storage Disorders- Muscle; Glycogen Storage Disease Type XIV; Glycogen storage disease XIV, 612934