Glycogen storage disease
Gene: PYGMAfter 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
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
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
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
Tag for-review was removed from gene: PYGM.
Tag watchlist tag was added to gene: PYGM. Tag for-review tag was added to gene: PYGM.
Publications for gene: PYGM were set to 20301518
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