Glycogen storage disease
Gene: PYGMEnsemblGeneIds (GRCh38): ENSG00000068976
EnsemblGeneIds (GRCh37): ENSG00000068976
OMIM: 608455, Gene2Phenotype
PYGM is in 16 panels
4 reviews
Sarah Leigh (Genomics England Curator)
After NHS Genomic Medicine Service consideration, the mode of inheritance of this gene has not been changedCreated: 3 Mar 2022, 1:16 p.m. | Last Modified: 3 Mar 2022, 1:16 p.m.
Panel Version: 1.7
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
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Zornitza Stark (Australian Genomics)
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)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Carol Hardy (West Midlands Regional Genetics Laboratory)
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Wessex and West Midlands GLH
- London North GLH
- Expert Review Green
- Phenotypes
-
- Glycogen storage disease V 232600
- Tags
- OMIM
- 608455
- Clinvar variants
- Variants in PYGM
- Penetrance
- None
- Publications
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Rhabdomyolysis and metabolic muscle disorders
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Ketotic hypoglycaemia
- Hyperammonaemia
- Skeletal muscle channelopathy
- Retinal disorders
- Likely inborn error of metabolism
- Acute rhabdomyolysis
- Arthrogryposis
- Glycogen storage disease V
- Glycogen storage disease
- Skeletal Muscle Channelopathies
- Fetal anomalies
- Paroxysmal central nervous system disorders
- Undiagnosed metabolic disorders
History Filter Activity
Removed Tag
Sarah Leigh (Genomics England Curator)Tag for-review was removed from gene: PYGM.
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.
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: PYGM were set to 20301518
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