Mackenzie's Mission_Reproductive Carrier Screening
Gene: GK

GK (glycerol kinase)
EnsemblGeneIds (GRCh38): ENSG00000198814
EnsemblGeneIds (GRCh37): ENSG00000198814
OMIM: 300474, Gene2Phenotype
GK is in 6 panels

1 review

Sarah Righetti (University of New South Wales)

Red List (low evidence)

Glycerol kinase deficiency displays extreme phenotypic heterogeneity from infantile to juvenile to benign adult forms.

Not possible to predict phenotypic outcome from variant - e.g. PMID 8651297 reports an asymptomatic 61yo with a c:553-1 substitution.PMID 9719371 reports a child with a large deletion in the GK gene who presented with metabolic acidosis in the first week of life; three relatives with the same genetic and biochemical defect had either minimal or no symptoms.

No apparent correlation between disease severity and genotype => not suitable for carrier screening => remove from MM list.
Created: 24 Jul 2021, 12:38 a.m. | Last Modified: 24 Jul 2021, 12:38 a.m.

Panel Version: 0.102

Phenotypes
Glycerol kinase deficiency, MIM# 307030

Publications

Created: 24 Jul 2021, 12:38 a.m.
Last Modified: 24 Jul 2021, 12:38 a.m.
Panel version: 0.102

Details

Mode of Inheritance

X-LINKED: hemizygous mutation in males, biallelic mutations in females

Sources

Expert Review Green
Mackenzie's Mission

Phenotypes

Glycerol kinase deficiency, 307030 (3)

OMIM

300474

Clinvar variants

Variants in GK

Penetrance

None

Panels with this gene

History Filter Activity

19 Apr 2020, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GK was added gene: GK was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: GK was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: GK were set to Glycerol kinase deficiency, 307030 (3)

Mackenzie's Mission_Reproductive Carrier Screening Gene: GK