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  3. GLYCTK
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Miscellaneous Metabolic Disorders

Gene: GLYCTK

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

1 review

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

Created: 4 Feb 2021, 10:05 p.m.
Last Modified: 4 Feb 2021, 10:06 p.m.
Panel version: 0.172

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • D-glyceric aciduria MIM#220120
  • Disorders of serine, glycine or glycerate metabolism
OMIM
610516
Clinvar variants
Variants in GLYCTK
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Feb 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

4 Feb 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

4 Feb 2021, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: GLYCTK was added gene: GLYCTK was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS Mode of inheritance for gene: GLYCTK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GLYCTK were set to 20949620; 31837836 Phenotypes for gene: GLYCTK were set to D-glyceric aciduria MIM#220120; Disorders of serine, glycine or glycerate metabolism Review for gene: GLYCTK was set to GREEN gene: GLYCTK was marked as current diagnostic