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Prepair 1000+

Gene: GK

Red List (low evidence)

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Variable age of onset and severity. Not suitable for reproductive carrier screening. R/V ZS/SL/AY/JM/AA/CL
Created: 11 Aug 2022, 7:27 a.m. | Last Modified: 11 Aug 2022, 7:27 a.m.
Panel Version: 0.119

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

Phenotypes
Glycerol kinase deficiency (MIM#307030)

Crystle Lee (Victorian Clinical Genetics Services)

I don't know

Glycerol kinase deficiency displays extreme phenotypic heterogeneity and is associated with three distinct clinical phenotypes:
Complex infantile form: Xp21 contiguous gene syndrome involving not only the GK locus but also the contiguous congenital adrenal hypoplasia locus or the Duchenne muscular dystrophy locus, or both
Juvenile and adult forms: intragenic variants

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
Created: 21 Jul 2022, 1:02 a.m. | Last Modified: 21 Jul 2022, 1:02 a.m.
Panel Version: 0.58

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Glycerol kinase deficiency (MIM#307030)

Publications

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • Mackenzie's Mission
Phenotypes
  • Glycerol kinase deficiency, 307030 (3)
OMIM
300474
Clinvar variants
Variants in GK
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Aug 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gk has been classified as Red List (Low Evidence).

11 Aug 2022, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: GK were set to

11 Aug 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gk has been classified as Red List (Low Evidence).

11 Aug 2022, Gel status: 3

Removed Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag for review was removed from gene: GK.

21 Jul 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag for review tag was added to gene: GK.

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: GK was added gene: GK was added to Reproductive Carrier Screen_VCGS. 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)