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  3. GK
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Miscellaneous Metabolic Disorders

Gene: GK

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

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Well-established gene-disease association (see OMIM entry). Isolated glycerol kinase deficiency 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 glycerol metabolism.
Sources: NHS GMS
Created: 4 Feb 2021, 4:47 a.m.

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

Phenotypes
Glycerol kinase deficiency MIM#307030; Disorders of glycerol metabolism

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 4 Feb 2021, 4:47 a.m.

Panel version: 0.160

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Glycerol kinase deficiency MIM#307030
  • Disorders of glycerol metabolism
OMIM
300474
Clinvar variants
Variants in GK
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: gk 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: gk 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: GK was added gene: GK was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS Mode of inheritance for gene: GK was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: GK were set to 27604308; 8499912; 8651297 Phenotypes for gene: GK were set to Glycerol kinase deficiency MIM#307030; Disorders of glycerol metabolism Review for gene: GK was set to GREEN gene: GK was marked as current diagnostic