Glycogen storage disease

Gene: PYGM

Green List (high evidence)

PYGM (glycogen phosphorylase, muscle associated)
EnsemblGeneIds (GRCh38): ENSG00000068976
EnsemblGeneIds (GRCh37): ENSG00000068976
OMIM: 608455, Gene2Phenotype
PYGM is in 15 panels

4 reviews

Sarah Leigh (Genomics England Curator)

Helen Britain review: One family with a monoallelic variant associating with disease described at present, with gene and effect are well characterised in this family. The "watchlist" tag is being added while further evidence is gathered to establish whether or not there is a wider association with monoallelic variants and disease (most carrier parents of affected children do not have a phenotype though) or whether there is something about this specific missense variant. It maybe worth considering adding this variant to a whitelist in the future.
Created: 8 Jul 2020, 10:44 a.m. | Last Modified: 8 Jul 2020, 10:44 a.m.
Panel Version: 1.4

Zornitza Stark (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. Consider changing MOI.
Created: 4 Jun 2020, 10:59 a.m. | Last Modified: 4 Jun 2020, 10:59 a.m.
Panel Version: 1.3

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

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

Publications

Emma Ashton (Great Ormond Street Hospital)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Carol Hardy (West Midlands Regional Genetics Laboratory)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Glycogen storage disease V 232600

Publications

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

History Filter Activity

8 Jul 2020, Gel status: 3

Added Tag, Added Tag

Sarah Leigh (Genomics England Curator)

Tag watchlist tag was added to gene: PYGM. Tag for-review tag was added to gene: PYGM.

23 Jun 2020, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: PYGM were set to 20301518

13 Feb 2019, Gel status: 4

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

Ivone Leong (Genomics England Curator)

gene: PYGM was added gene: PYGM 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: PYGM was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PYGM were set to 20301518 Phenotypes for gene: PYGM were set to Glycogen storage disease V 232600