Cytopenias and congenital anaemias
Gene: PFKMComment on phenotypes: Tarui disease; Muscle phosphofructokinase deficiency; GSD type VIICreated: 9 Mar 2017, 11:45 a.m.
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.
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
Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.
This gene has been classified as Green List (High Evidence).
Phenotypes for PFKM were set to Glycogen storage disease VII, 232800
PFKM was added to Cytopaenias and congenital anaemiaspanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
This gene has been classified as Green List (High Evidence).
Publications for PFKM were set to 7513946;7479776;8889589
Phenotypes for PFKM were set to Enzyme Disorder; Glycogen storage disease; Glycogen storage disease VII, 232800;Tarui disease;Muscle phosphofructokinase deficiency;GSD type VII
Phenotypes for PFKM were set to Enzyme Disorder; Glycogen storage disease; Glycogen storage disease VII, 232800
Phenotypes for PFKM were set to Enzyme Disorder; Glycogen storage disease; Glycogen storage disease VII,232800
PFKM was created by LouiseD
PFKM was added to Cytopaenias and congenital anaemiaspanel. Sources: BRIDGE consortium (NIHRBR-RD)