Ketotic hypoglycaemia

Gene: PYGM

Red List (low evidence)

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

2 reviews

Alexander Broomfield (Central Manchester Foundation Trust)

Red List (low evidence)

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Demoted from amber to red due to expert review.
Created: 8 Jun 2016, 11:46 a.m.
Comment on list classification: Associated with McArdle disease.
Created: 6 Apr 2016, 9:37 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • UKGTN
Phenotypes
  • Glycogen Storage Disease Type V
  • Glycogen Storage Disease V (McArdle Disease)
  • Glycogen Storage Disorders- Muscle
  • Glycogen Storage Disease
  • Glycogen Storage Disease V
OMIM
608455
Clinvar variants
Variants in PYGM
Penetrance
Complete
Panels with this gene

History Filter Activity

8 Jun 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

8 Jun 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

6 Apr 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

19 Oct 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

PYGM was added to Ketotic hypoglycaemiapanel. Sources: Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,UKGTN