Likely inborn error of metabolism
Gene: GLYCTK

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

Created: 23 Feb 2017, 5:14 p.m.

Panel version: Imported from Undiagnosed metabolic disorders panel version 0.304

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

27604308

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