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Intellectual disability syndromic and non-syndromic

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)

Intellectual disability is associated with a complex infantile form of glycerol kinase deficiency caused by a contiguous gene syndrome (Xp21 deletion) that includes GK in addition to the congenital adrenal hypoplasia gene (NR0B1), the Duchenne muscular dystrophy gene (DMD), or both. Whereas hemizygous (or biallelic in females) variants within GK cause infantile and adult forms of GK deficiency. The infantile form is characterised by vomiting, metabolic acidosis, and coma in the first years of life, while the adult form is usually benign.
Created: 19 Oct 2024, 12:50 a.m. | Last Modified: 19 Oct 2024, 12:50 a.m.
Panel Version: 0.6507

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

Phenotypes
inborn glycerol kinase deficiency MONDO:0010613; X-linked adrenal hypoplasia congenita MONDO:0010264

Publications

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • inborn glycerol kinase deficiency MONDO:0010613
  • X-linked adrenal hypoplasia congenita MONDO:0010264
Tags
SV/CNV
OMIM
300474
Clinvar variants
Variants in GK
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 Oct 2024, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: gk has been classified as Green List (High Evidence).

19 Oct 2024, Gel status: 3

Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

Phenotypes for gene: GK were changed from to inborn glycerol kinase deficiency MONDO:0010613; X-linked adrenal hypoplasia congenita MONDO:0010264

19 Oct 2024, Gel status: 3

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: GK were set to

19 Oct 2024, Gel status: 3

Set mode of inheritance

Bryony Thompson (Royal Melbourne Hospital)

Mode of inheritance for gene: GK was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females

19 Oct 2024, Gel status: 3

Added Tag

Bryony Thompson (Royal Melbourne Hospital)

Tag SV/CNV tag was added to gene: GK.

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GK was added gene: GK was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: GK was set to Unknown