Arthrogryposis
Gene: PYGM
PYGM (glycogen phosphorylase, muscle associated)
EnsemblGeneIds (GRCh38): ENSG00000068976
EnsemblGeneIds (GRCh37): ENSG00000068976
OMIM: 608455, Gene2Phenotype
PYGM is in 16 panels
EnsemblGeneIds (GRCh38): ENSG00000068976
EnsemblGeneIds (GRCh37): ENSG00000068976
OMIM: 608455, Gene2Phenotype
PYGM is in 16 panels
1 review
Alice Gardham (Genomics England)
Comment when marking as ready: No association with arthrogryposisCreated: 22 Dec 2016, 3:47 p.m.
Details
- Sources
-
- Expert Review Red
- Expert list
- OMIM
- 608455
- Clinvar variants
- Variants in PYGM
- Penetrance
- Complete
- Panels with this gene
-
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Childhood onset dystonia, chorea or related movement disorder
- Undiagnosed metabolic disorders
- Ketotic hypoglycaemia
- Hyperammonaemia
- Skeletal muscle channelopathy
- Arthrogryposis
- Paroxysmal central nervous system disorders
- Retinal disorders
- Likely inborn error of metabolism
- Rhabdomyolysis and metabolic muscle disorders
- Glycogen storage disease V
- Glycogen storage disease
- Fetal anomalies
- Skeletal Muscle Channelopathies
- Acute rhabdomyolysis
History Filter Activity
16 Jan 2017, Gel status: 1
panel promoted to version 2
Ellen McDonagh (Genomics England Curator)16th Jan 2016: This gene panel was extensively revised with the addition of 101 green genes and review by Alice Gardham. Due to this extensive change to the panel, the decision was made to promote it to the next major version, version 2.
22 Dec 2016, Gel status: 1
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
21 Dec 2016, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)PYGM was added to Arthrogryposispanel. Sources: Expert list
21 Dec 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)PYGM was created by ellenmcdonagh