Monogenic Diabetes

Gene: GCK

Green List (high evidence)

GCK (glucokinase)
EnsemblGeneIds (GRCh38): ENSG00000106633
EnsemblGeneIds (GRCh37): ENSG00000106633
OMIM: 138079, Gene2Phenotype
GCK is in 8 panels

1 review

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

Well reported gene-disease association. Inactivating loss of function variants are associated with MODY type II (MIM#125851) and diabetes mellitus, permanent neonatal 1 (MIM#606176). Activating gain of function variants have been associated with hyperinsulinemic hypoglycemia, and usually cluster in a discrete region of the protein termed the allosteric activator site.
Created: 19 May 2022, 5:58 a.m. | Last Modified: 19 May 2022, 5:58 a.m.
Panel Version: 0.26

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Diabetes mellitus, noninsulin-dependent, late onset, AD (MIM#125853); Diabetes mellitus, permanent neonatal 1, AR (MIM#606176); Hyperinsulinemic hypoglycemia, familial, 3, AD (MIM#602485); MODY, type II, AD (MIM#125851)

Publications

Details

Mode of Inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Diabetes mellitus, noninsulin-dependent, late onset, AD (MIM#125853)
  • Diabetes mellitus, permanent neonatal 1, AR (MIM#606176)
  • Hyperinsulinemic hypoglycemia, familial, 3, AD (MIM#602485)
  • MODY, type II, AD (MIM#125851)
OMIM
138079
Clinvar variants
Variants in GCK
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 May 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

29 May 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: GCK were changed from Permanent neonatal diabetes; Maturity-Onset Diabetes Of The Young; MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 2; Diabetes mellitus, permanent neonatal, 606176; Maturity-onset diabetes of the young (MODY); Permanent Neonatal Diabetes Mellitus; Maturity Onset Diabetes of the Young (Dominant); MODY, type II, 125851; Fasting hyperglycaemia; Maturity Onset Diabetes of the Young; Neonatal diabetes; Hyperinsulinemic hypoglycemia, familial, 3, 602485; Permanent Neonatal Diabetes Mellitus (recessive); Transient Neonatal Diabetes, Recessive; Diabetes mellitus, noninsulin-dependent, late onset, 125853; MODY2; Diabetes mellitus, gestational, 125851 to Diabetes mellitus, noninsulin-dependent, late onset, AD (MIM#125853); Diabetes mellitus, permanent neonatal 1, AR (MIM#606176); Hyperinsulinemic hypoglycemia, familial, 3, AD (MIM#602485); MODY, type II, AD (MIM#125851)

29 May 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: GCK were set to

17 Jan 2020, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GCK was added gene: GCK was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: GCK was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Phenotypes for gene: GCK were set to Permanent neonatal diabetes; Maturity-Onset Diabetes Of The Young; MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 2; Diabetes mellitus, permanent neonatal, 606176; Maturity-onset diabetes of the young (MODY); Permanent Neonatal Diabetes Mellitus; Maturity Onset Diabetes of the Young (Dominant); MODY, type II, 125851; Fasting hyperglycaemia; Maturity Onset Diabetes of the Young; Neonatal diabetes; Hyperinsulinemic hypoglycemia, familial, 3, 602485; Permanent Neonatal Diabetes Mellitus (recessive); Transient Neonatal Diabetes, Recessive; Diabetes mellitus, noninsulin-dependent, late onset, 125853; MODY2; Diabetes mellitus, gestational, 125851