Rare anaemia
Gene: PGK1
Comment on list classification: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be downgraded from Green to AmberCreated: 22 Jul 2019, 3:33 p.m. | Last Modified: 22 Jul 2019, 3:33 p.m.
Panel Version: 0.54
Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: PGK1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Phenotypes: 300653 Phosphoglycerate kinase 1 deficiency; PMID(s): 16740138; 6412025Created: 8 Feb 2019, 3:49 p.m.
Gene rating submitted by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group.Created: 8 Feb 2019, 3:46 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
300653 Phosphoglycerate kinase 1 deficiency
Publications
Variants in this GENE are reported as part of current diagnostic practice
Gene: pgk1 has been classified as Amber List (Moderate Evidence).
Source Expert Review Green was added to PGK1. Mode of inheritance for gene PGK1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females Added phenotypes 300653 Phosphoglycerate kinase 1 deficiency for gene: PGK1 Rating Changed from Red List (low evidence) to Green List (high evidence)
Added phenotypes 300653 Phosphoglycerate kinase 1 deficiency for gene: PGK1 Publications for gene PGK1 were changed from to 6412025; 16740138
Source NHS GMS was added to PGK1.
gene: PGK1 was added gene: PGK1 was added to Rare anaemia. Sources: London South GLH Mode of inheritance for gene: PGK1 was set to