Skeletal Muscle Channelopathies

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

1 review

Arianna Tucci (Genomics England Curator)

Comment when marking as ready: The gene was added to the panel as can cause an overlapping phenotype
Created: 21 Feb 2017, 1:48 p.m.
McArdle disease can be in differentials with skeletal muscle channelopathies, as suggested by expert Dr Matthews
Created: 21 Feb 2017, 1:43 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
McArdle disease, 232600

History Filter Activity

22 Feb 2017, Gel status: 4

panel promoted to version 1

Arianna Tucci (Genomics England Curator)

Promoted 22/02/2017 after curation discussion and further review with members of the Genomics England curation team.

21 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

21 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

21 Feb 2017, Gel status: 0

Added New Source

Arianna Tucci (Genomics England Curator)

PYGM was added to Skeletal Muscle Channelopathiespanel. Sources: Expert Review

21 Feb 2017, Gel status: 0

Created

Arianna Tucci (Genomics England Curator)

PYGM was created by arianna