Rhabdomyolysis and metabolic muscle disorders
Gene: PGM1EnsemblGeneIds (GRCh38): ENSG00000079739
EnsemblGeneIds (GRCh37): ENSG00000079739
OMIM: 171900, Gene2Phenotype
PGM1 is in 12 panels
2 reviews
Richard Kirk (Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Foundation Trust)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital disorder of glycosylation, type It; Glycogen storage disease type XIV
Publications
Variants in this GENE are reported as part of current diagnostic practice
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotype in OMIM and as a confirmed Developmental Disorder Gene / G2P. At least 9 variants reported.Created: 5 Dec 2016, 11:12 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Literature
- Emory Genetics Laboratory
- UKGTN
- Phenotypes
-
- Congenital disorder of glycosylation, type It 614921
- OMIM
- 171900
- Clinvar variants
- Variants in PGM1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Ketotic hypoglycaemia
- Glycogen storage disease
- Fetal anomalies
- Clefting
- Undiagnosed metabolic disorders
- Intellectual disability
- Congenital disorders of glycosylation
- Childhood onset dystonia, chorea or related movement disorder
- Rhabdomyolysis and metabolic muscle disorders
- Likely inborn error of metabolism
- Acute rhabdomyolysis
- DDG2P
History Filter Activity
Set publications
Sarah Leigh (Genomics England Curator)Publications for PGM1 were set to 25929793; 19625727; 22492991
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Panel promoted to V1 4th January 2017
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Upload gene information
Sarah Leigh (Genomics England Curator)PGM1 was added to Rhabdomyolysis and metabolic muscle disorderspanel. Sources: Literature,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
Set Mode of Inheritance
Sarah Leigh (Genomics England Curator)Model of inheritance for gene PGM1 was set to BIALLELIC, autosomal or pseudoautosomal
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene PGM1 were set to Congenital disorder of glycosylation, type It 614921
Added New Source
Sarah Leigh (Genomics England Curator)PGM1 was added to Rhabdomyolysis and metabolic muscle disorderspanel. Sources: UKGTN
Created
Sarah Leigh (Genomics England Curator)PGM1 was created by sleigh