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Inborn errors of metabolism

Gene: GLYCTK

Green List (high evidence)

GLYCTK (glycerate kinase)
EnsemblGeneIds (GRCh38): ENSG00000168237
EnsemblGeneIds (GRCh37): ENSG00000168237
OMIM: 610516, Gene2Phenotype
GLYCTK is in 5 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

Phenotypes
D-glyceric aciduria 220120

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • D-glyceric aciduria 220120
  • D-glyceric aciduria (Disorders of serine, glycine or glycerate metabolism)
OMIM
610516
Clinvar variants
Variants in GLYCTK
Penetrance
None
Publications
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)