1. Panels
  2. Limb-Girdle Muscular Dystrophy and Distal Myopathy
  3. PYGM
Regions in panel
Prev Next

Limb-Girdle Muscular Dystrophy and Distal Myopathy

Gene: PYGM

Amber List (moderate evidence)
PYGM (glycogen phosphorylase, muscle associated)
EnsemblGeneIds (GRCh38): ENSG00000068976
EnsemblGeneIds (GRCh37): ENSG00000068976
OMIM: 608455, Gene2Phenotype
PYGM is in 9 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Comment when marking as ready: Phenotypic overlap.
Created: 29 Jun 2020, 10:42 a.m. | Last Modified: 29 Jun 2020, 10:42 a.m.
Panel Version: 0.31
Created: 29 Jun 2020, 10:42 a.m.
Last Modified: 29 Jun 2020, 10:42 a.m.
Panel version: 0.31

Crystle Lee (Victorian Clinical Genetics Services)

I don't know

Well established gene disease association. McArdle disease is "one of the most frequent metabolic myopathies". Included in this panel as a differential diagnosis to LGMD (PanelApp Uk)
Sources: Expert Review
Created: 29 Jun 2020, 3:44 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
McArdle disease (MIM#232600)

Publications

Created: 29 Jun 2020, 3:44 a.m.

Panel version: 0.18

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • McArdle disease (MIM#232600)
OMIM
608455
Clinvar variants
Variants in PYGM
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Jun 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pygm has been classified as Amber List (Moderate Evidence).

29 Jun 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pygm has been classified as Amber List (Moderate Evidence).

29 Jun 2020, Gel status: 0

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

Crystle Lee (Victorian Clinical Genetics Services)

gene: PYGM was added gene: PYGM was added to Limb Girdle Muscular Dystrophy. Sources: Expert Review Mode of inheritance for gene: PYGM was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PYGM were set to 29143597; 25914343 Phenotypes for gene: PYGM were set to McArdle disease (MIM#232600) Review for gene: PYGM was set to AMBER