This Panel is marked as Internal
Anaemias and red cell disorders
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
BRIDGE consortium (NIHRBR-RD)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Enzyme Disorder; Glycogen storage disease
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Phenotypes
-
- Enzyme Disorder
- Glycogen storage disease
- OMIM
- 610681
- Clinvar variants
- Variants in PFKM
- Penetrance
- Complete
- Panels with this gene
-
- Undiagnosed metabolic disorders
- Childhood onset dystonia, chorea or related movement disorder
- Rhabdomyolysis and metabolic muscle disorders
- Likely inborn error of metabolism
- Cytopenias and congenital anaemias
- Acute rhabdomyolysis
- Rare anaemia
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Ketotic hypoglycaemia
- Arthrogryposis
- Glycogen storage disease
- Hyperammonaemia
- Fetal anomalies
History Filter Activity
16 Jan 2017, Gel status: 0
Approved Gene
Louise Daugherty (Genomics England Curator)This proposed gene was validated and added to this panel
16 Jan 2017, Gel status: 0
Added New Source
BRIDGE consortium (NIHRBR-RD)PFKM was added to Anaemias and red cell disorderspanel. Sources: BRIDGE consortium (NIHRBR-RD)
16 Jan 2017, Gel status: 0
Created
BRIDGE consortium (NIHRBR-RD)PFKM was created by BRIDGE