1. Panels
  2. Glycogen Storage Diseases
  3. PYGM
STRs in panel
Prev Next
Regions in panel
Prev Next

Glycogen Storage Diseases

Gene: PYGM

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Gene-disease association for bi-allelic variants is well established. Report of a large family (13 affecteds) with heterozygous missense variant and adult-onset of muscle weakness.
Created: 4 Jun 2020, 10:29 a.m. | Last Modified: 4 Jun 2020, 10:29 a.m.
Panel Version: 0.4

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
McArdle disease, MIM# 232600; Glycogen storage disease, autosomal dominant

Publications

Created: 4 Jun 2020, 10:29 a.m.
Last Modified: 4 Jun 2020, 10:29 a.m.
Panel version: 0.4

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • McArdle disease, MIM# 232600
  • Glycogen storage disease, autosomal dominant
OMIM
608455
Clinvar variants
Variants in PYGM
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Jun 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pygm has been classified as Green List (High Evidence).

4 Jun 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PYGM were set to 32386344

4 Jun 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PYGM were changed from to McArdle disease, MIM# 232600; Glycogen storage disease, autosomal dominant

4 Jun 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PYGM were set to 32386344

4 Jun 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PYGM were set to

4 Jun 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: PYGM was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PYGM was added gene: PYGM was added to Glycogen Storage Diseases_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PYGM was set to Unknown