Acute rhabdomyolysis
Gene: PFKM
PFKM (phosphofructokinase, muscle)
EnsemblGeneIds (GRCh38): ENSG00000152556
EnsemblGeneIds (GRCh37): ENSG00000152556
OMIM: 610681, Gene2Phenotype
PFKM is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000152556
EnsemblGeneIds (GRCh37): ENSG00000152556
OMIM: 610681, Gene2Phenotype
PFKM is in 13 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
-
- Glycogen storage disease VII, OMIM:232800
- OMIM
- 610681
- Clinvar variants
- Variants in PFKM
- Penetrance
- None
- Publications
- Panels with this gene
-
- Undiagnosed metabolic disorders
- Cytopenias and congenital anaemias
- Rhabdomyolysis and metabolic muscle disorders
- Arthrogryposis
- Rare anaemia
- Ketotic hypoglycaemia
- Childhood onset dystonia, chorea or related movement disorder
- Glycogen storage disease
- Likely inborn error of metabolism
- Hyperammonaemia
- Acute rhabdomyolysis
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Fetal anomalies
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: PFKM was added gene: PFKM was added to Acute rhabdomyolysis. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: PFKM was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PFKM were set to 25929793; 11949936; 8037209 Phenotypes for gene: PFKM were set to Glycogen storage disease VII, OMIM:232800