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Epileptic encephalopathy

Gene: GLYCTK

Green List (high evidence)

GLYCTK (glycerate kinase)
EnsemblGeneIds (GRCh38): ENSG00000168237
EnsemblGeneIds (GRCh37): ENSG00000168237
OMIM: 610516, Gene2Phenotype
GLYCTK is in 7 panels

1 review

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

'treatable' tag, as intervention with a fructose-restricted diet may lead to clinical improvement - PMID:3588091
Created: 16 Mar 2017, 2:53 p.m.
Inclusion of this as a green gene on this panel is appropriate, based on the review in the Undiagnosed metabolic disorders panel and the views of clinical expert, Dr Arianna Tucci, UCL.
Created: 16 Mar 2017, 2:52 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
D-glyceric aciduria 220120

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • D-glyceric aciduria 220120
Tags
treatable
OMIM
610516
Clinvar variants
Variants in GLYCTK
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

16 Mar 2017, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

16 Mar 2017, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

GLYCTK was added to Epileptic encephalopathypanel. Sources: Expert Review

16 Mar 2017, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

GLYCTK was created by sleigh