Glucokinase-related fasting hyperglycaemia
Gene: GCKEnsemblGeneIds (GRCh38): ENSG00000106633
EnsemblGeneIds (GRCh37): ENSG00000106633
OMIM: 138079, Gene2Phenotype
GCK is in 8 panels
1 review
Achchuthan Shanmugasundram (Genomics England Curator)
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
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
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