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  2. Likely inborn error of metabolism
  3. PYGM
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Likely inborn error of metabolism

Gene: PYGM

Green List (high evidence)
PYGM (glycogen phosphorylase, muscle associated)
EnsemblGeneIds (GRCh38): ENSG00000068976
EnsemblGeneIds (GRCh37): ENSG00000068976
OMIM: 608455, Gene2Phenotype
PYGM is in 16 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

Created: 13 Jan 2017, 4:14 p.m.

Panel version: Imported from Undiagnosed metabolic disorders panel version 0.76

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 PYGM. Source London North GLH was added to PYGM.

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

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

Ellen McDonagh (Genomics England Curator)

gene: PYGM was added gene: PYGM was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PYGM was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PYGM were set to 27604308 Phenotypes for gene: PYGM were set to Glycogen storage disease type V, McArdle (Glycogen storage disorders); McArdle disease 232600