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Prepair 1000+

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

Cassandra Muller (Victorian Clinical Genetics Services)

Green List (high evidence)

Highly variable metabolic condition, can result in early death. Reported in at least 4+ unrelated cases.
Created: 4 Dec 2024, 4:17 a.m. | Last Modified: 4 Dec 2024, 4:17 a.m.
Panel Version: 1.633

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
D-glyceric aciduria, 220120 (3)

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • D-glyceric aciduria, MIM#220120
OMIM
610516
Clinvar variants
Variants in GLYCTK
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Dec 2024, 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).

12 Dec 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: GLYCTK were changed from D-glyceric aciduria, 220120 (3) to D-glyceric aciduria, MIM#220120

12 Dec 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: GLYCTK were set to

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GLYCTK was added gene: GLYCTK was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: GLYCTK was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GLYCTK were set to D-glyceric aciduria, 220120 (3)