Miscellaneous Metabolic Disorders
Gene: GLYCTK
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 GMSCreated: 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
Gene: glyctk has been classified as Green List (High Evidence).
Gene: glyctk has been classified as Green List (High Evidence).
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