Arthrogryposis
Gene: PFKMEnsemblGeneIds (GRCh38): ENSG00000152556
EnsemblGeneIds (GRCh37): ENSG00000152556
OMIM: 610681, Gene2Phenotype
PFKM is in 13 panels
1 review
Alice Gardham (Genomics England)
Comment on list classification: Around 60% of those with infantile form have arthrogryposisCreated: 5 Jan 2017, 12:23 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Glycogen storage disease VII 232800
- OMIM
- 610681
- Clinvar variants
- Variants in PFKM
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Fetal anomalies
- Likely inborn error of metabolism
- Undiagnosed metabolic disorders
- Cytopenias and congenital anaemias
- Acute rhabdomyolysis
- Rhabdomyolysis and metabolic muscle disorders
- Arthrogryposis
- Rare anaemia
- Ketotic hypoglycaemia
- Childhood onset dystonia, chorea or related movement disorder
- Glycogen storage disease
- Hyperammonaemia
History Filter Activity
panel promoted to version 2
Ellen McDonagh (Genomics England Curator)16th Jan 2016: This gene panel was extensively revised with the addition of 101 green genes and review by Alice Gardham. Due to this extensive change to the panel, the decision was made to promote it to the next major version, version 2.
Set Mode of Inheritance
Alice Gardham (Genomics England)Mode of inheritance for PFKM was changed to BIALLELIC, autosomal or pseudoautosomal
Set Phenotypes
Alice Gardham (Genomics England)Phenotypes for PFKM were set to Glycogen storage disease VII 232800
Set publications
Alice Gardham (Genomics England)Publications for PFKM were set to 26108272
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)PFKM was added to Arthrogryposispanel. Sources: Expert list
Created
Ellen McDonagh (Genomics England Curator)PFKM was created by ellenmcdonagh