Acute rhabdomyolysis
Gene: PGM1
PGM1 (phosphoglucomutase 1)
EnsemblGeneIds (GRCh38): ENSG00000079739
EnsemblGeneIds (GRCh37): ENSG00000079739
OMIM: 171900, Gene2Phenotype
PGM1 is in 12 panels
EnsemblGeneIds (GRCh38): ENSG00000079739
EnsemblGeneIds (GRCh37): ENSG00000079739
OMIM: 171900, Gene2Phenotype
PGM1 is in 12 panels
1 review
Arina Puzriakova (Genomics England Curator)
This gene has been added to the panel on the recommendation of the NHS Genomic Medicine Service and should be rated green.Created: 16 Feb 2022, 2:32 p.m. | Last Modified: 16 Feb 2022, 2:32 p.m.
Panel Version: 0.6
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Congenital disorder of glycosylation, type It, OMIM:614921
- OMIM
- 171900
- Clinvar variants
- Variants in PGM1
- Penetrance
- None
- 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
19 Jan 2022, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Arina Puzriakova (Genomics England Curator)gene: PGM1 was added gene: PGM1 was added to Acute rhabdomyolysis. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: PGM1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PGM1 were set to 25929793; 19625727; 22492991 Phenotypes for gene: PGM1 were set to Congenital disorder of glycosylation, type It, OMIM:614921