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Glucokinase-related fasting hyperglycaemia

Gene: GCK

Green List (high evidence)

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

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIMs #125851, #125853, #602485 & #606176) and these OMIM records were last accessed on 19 December 2025.
Created: 19 Dec 2025, 10:15 p.m. | Last Modified: 19 Dec 2025, 10:15 p.m.
Panel Version: 1.2
GCK has been added to the panel for R142 Glucokinase-related fasting hyperglycaemia with a green rating as agreed with the NHS Genomic Medicine Service.
Created: 30 Jun 2023, 1:19 p.m. | Last Modified: 30 Jun 2023, 1:19 p.m.
Panel Version: 0.1

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • MODY, type II, OMIM:125851
  • Diabetes mellitus, noninsulin-dependent, late onset, OMIM:125853
  • Hyperinsulinemic hypoglycemia, familial, 3, OMIM:602485
  • Diabetes mellitus, permanent neonatal 1, OMIM:606176
  • maturity-onset diabetes of the young type 2, MONDO:0007453
  • permanent neonatal diabetes mellitus 1, MONDO:0100165
  • hyperinsulinism due to glucokinase deficiency, MONDO:0011236
OMIM
138079
Clinvar variants
Variants in GCK
Penetrance
None
Panels with this gene

History Filter Activity

19 Dec 2025, Gel status: 3

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: GCK were changed from to MODY, type II, OMIM:125851; Diabetes mellitus, noninsulin-dependent, late onset, OMIM:125853; Hyperinsulinemic hypoglycemia, familial, 3, OMIM:602485; Diabetes mellitus, permanent neonatal 1, OMIM:606176; maturity-onset diabetes of the young type 2, MONDO:0007453; permanent neonatal diabetes mellitus 1, MONDO:0100165; hyperinsulinism due to glucokinase deficiency, MONDO:0011236

29 Jun 2023, Gel status: 3

Created, Added New Source, Set mode of inheritance

Achchuthan Shanmugasundram (Genomics England Curator)

gene: GCK was added gene: GCK was added to Glucokinase-related fasting hyperglycaemia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: GCK was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown