This Panel is marked as Retired
Epileptic encephalopathy
Gene: GLYCTK
GLYCTK (glycerate kinase)
EnsemblGeneIds (GRCh38): ENSG00000168237
EnsemblGeneIds (GRCh37): ENSG00000168237
OMIM: 610516, Gene2Phenotype
GLYCTK is in 5 panels
EnsemblGeneIds (GRCh38): ENSG00000168237
EnsemblGeneIds (GRCh37): ENSG00000168237
OMIM: 610516, Gene2Phenotype
GLYCTK is in 5 panels
1 review
Sarah Leigh (Genomics England Curator)
'treatable' tag, as intervention with a fructose-restricted diet may lead to clinical improvement - PMID:3588091Created: 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
- 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