Genes in panel

Likely inborn error of metabolism - targeted testing not possible


Green List (high evidence)

GLYCTK (glycerate kinase)
EnsemblGeneIds (GRCh38): ENSG00000168237
EnsemblGeneIds (GRCh37): ENSG00000168237
OMIM: 610516, Gene2Phenotype
GLYCTK is in 6 panels

1 review

Ellen McDonagh (Genomics England Curator)

Green List (high evidence)

Three patients from different ethnicities with deficiency of deficiency of D-glycerate kinase reported to have homozygous variants in this gene, with supporting in vitro functional studies - PMID: 20949620. D-glycerate kinase deficiency is a cause of D-glyceric aciduria - PMID: 2537226. Added the 'treatable' tag, as intervention with a fructose-restricted diet may lead to clinical improvement - PMID:3588091. May be more cases where an underlying genetic variant causes the disorder, but genetic screening was not available in early studies that indicated a genetic defect e.g.PMID: 6434823.
Created: 23 Feb 2017, 5:14 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

D-glyceric aciduria 220120



Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
  • London North GLH
  • Expert Review Green
  • D-glyceric aciduria 220120
  • D-glyceric aciduria (Disorders of serine, glycine or glycerate metabolism)
Clinvar variants
Variants in GLYCTK
Panels with this gene

History Filter Activity

13 Feb 2019, Gel status: 4

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to GLYCTK. Source London North GLH was added to GLYCTK.

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Ellen McDonagh: Comment on mode of pathogenici

16 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: GLYCTK was added gene: GLYCTK was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: GLYCTK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GLYCTK were set to 27604308 Phenotypes for gene: GLYCTK were set to D-glyceric aciduria 220120; D-glyceric aciduria (Disorders of serine, glycine or glycerate metabolism)