Cytopenias and congenital anaemias
Gene: PFKMEnsemblGeneIds (GRCh38): ENSG00000152556
EnsemblGeneIds (GRCh37): ENSG00000152556
OMIM: 610681, Gene2Phenotype
PFKM is in 13 panels
3 reviews
Sarah Leigh (Genomics England Curator)
Comment on phenotypes: Tarui disease; Muscle phosphofructokinase deficiency; GSD type VIICreated: 9 Mar 2017, 11:45 a.m.
Louise Daugherty (Genomics England Curator)
Comment on list classification: changed status to Green due to evidence in the literatureCreated: 2 Mar 2017, 10:58 a.m.
Comment on publications: Evidence in literature for more than 3 unrelated casesCreated: 2 Mar 2017, 10:57 a.m.
Comment on phenotypes: added phenotypes from OMIMCreated: 2 Mar 2017, 10:47 a.m.
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
-
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- BRIDGE consortium (NIHRBR-RD)
- Phenotypes
-
- Glycogen storage disease VII, 232800
- OMIM
- 610681
- Clinvar variants
- Variants in PFKM
- Penetrance
- Complete
- Publications
- 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
panel promoted to version 1
Arianna Tucci (Genomics England Curator)Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for PFKM were set to Glycogen storage disease VII, 232800
Upload gene information
Louise Daugherty (Genomics England Curator)PFKM was added to Cytopaenias and congenital anaemiaspanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
Gene classified by Genomics England curator
Louise Daugherty (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Louise Daugherty (Genomics England Curator)Publications for PFKM were set to 7513946;7479776;8889589
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for PFKM were set to Enzyme Disorder; Glycogen storage disease; Glycogen storage disease VII, 232800;Tarui disease;Muscle phosphofructokinase deficiency;GSD type VII
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for PFKM were set to Enzyme Disorder; Glycogen storage disease; Glycogen storage disease VII, 232800
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for PFKM were set to Enzyme Disorder; Glycogen storage disease; Glycogen storage disease VII,232800
Created
Louise Daugherty (Genomics England Curator)PFKM was created by LouiseD
Added New Source
Louise Daugherty (Genomics England Curator)PFKM was added to Cytopaenias and congenital anaemiaspanel. Sources: BRIDGE consortium (NIHRBR-RD)