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Genetic Epilepsy

Gene: GLYCTK

Green List (high evidence)

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

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

At least 4 unrelated cases reported. D-glyceric aciduria is classified as a metabolic disorder by the NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of amino acid metabolism
Sources: NHS GMS
Created: 4 Feb 2021, 10:05 p.m. | Last Modified: 4 Feb 2021, 10:06 p.m.
Panel Version: 0.173

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
D-glyceric aciduria MIM#220120; Disorders of serine, glycine or glycerate metabolism

Publications

Variants in this GENE are reported as part of current diagnostic practice

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

At least three of the four reported individuals with this metabolic disorder had seizures.
Created: 22 Jan 2020, 11:02 a.m. | Last Modified: 22 Jan 2020, 11:02 a.m.
Panel Version: 0.294

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
D-glyceric aciduria, MIM# 220120

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Epilepsy Flagship
Phenotypes
  • D-glyceric aciduria, MIM# 220120
OMIM
610516
Clinvar variants
Variants in GLYCTK
Penetrance
None
Publications
Panels with this gene

History Filter Activity

22 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: glyctk has been classified as Green List (High Evidence).

22 Jan 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: GLYCTK were changed from to D-glyceric aciduria, MIM# 220120

22 Jan 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: GLYCTK were set to

22 Jan 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: GLYCTK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GLYCTK was added gene: GLYCTK was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: GLYCTK was set to Unknown