Rare anaemia

Gene: PGK1

I don't know

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 Amber

Created: 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; 6412025

Created: 8 Feb 2019, 3:49 p.m.

Green List (high evidence)

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

• 16740138
• 6412025

Variants in this GENE are reported as part of current diagnostic practice