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  3. GCK
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Monogenic diabetes

Gene: GCK

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

4 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Comment on phenotypes: Previous phenotypes:

Transient Neonatal Diabetes, Recessive;MODY2;Diabetes mellitus, permanent neonatal, 606176;Maturity-Onset Diabetes Of The Young;Hyperinsulinemic hypoglycemia, familial, 3, 602485;Diabetes mellitus, noninsulin-dependent, late onset, 125853;Permanent neonatal diabetes;MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 2;Permanent Neonatal Diabetes Mellitus (recessive);Maturity-onset diabetes of the young (MODY);Permanent Neonatal Diabetes Mellitus;Maturity Onset Diabetes of the Young (Dominant);Diabetes mellitus, gestational, 125851;MODY, type II, 125851;Maturity Onset Diabetes of the Young;Neonatal diabetes;Fasting hyperglycaemia
Created: 15 Mar 2021, 4:55 p.m. | Last Modified: 15 Mar 2021, 4:55 p.m.
Panel Version: 2.16
Initial gene list and info collated by Sian Ellard, University of Exeter Medical School, August 2018 on behalf of the GMS Endocrinology specialist test group. Gene Symbol submitted: GCK; Suggested intial gene rating: Green; Evidence for inclusion: none given; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given; Phenotypes: Neonatal diabetes; Fasting hyperglycaemia.
Created: 11 Jan 2019, 10:04 a.m.
Created: 11 Jan 2019, 10:04 a.m.

Panel version: 0.8

Sian Ellard (University of Exeter Medical School)

Green List (high evidence)

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

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

Created: 5 Nov 2017, 2:41 a.m.

Panel version: Imported from Familial diabetes panel version 0

Ellen McDonagh (Genomics England Curator)

From Illumina information for this gene, Pemanent neonatal diabetes mellitus and Transient neonatal diabetes have a recessive mode of inheritance, whereas Maturity Onset Diabetes of the Young has a dominant mode of inheritance.
Created: 9 Sep 2015, 8:54 a.m.
Created: 9 Sep 2015, 8:54 a.m.

Panel version: Imported from Familial diabetes panel version 0

Ellen Thomas (Genomics England)

Green List (high evidence)

Monoallelic - lifelong stable fasting hyperglycaemia
Biallelic - permanent neonatal diabetes
Created: 6 Jul 2015, 7:34 p.m.

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Mode of pathogenicity
loss-of-function (truncating variants and curated list of variants)

Created: 6 Jul 2015, 7:34 p.m.

Panel version: Imported from Familial diabetes panel version 0

Details

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

History Filter Activity

15 Mar 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

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

15 Jul 2019, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

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

30 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ivone Leong (Genomics England Curator)

Ivone Leong: Initial gene list and info col

11 Jan 2019, Gel status: 4

Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to GCK.

18 Dec 2018, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Added phenotypes Transient Neonatal Diabetes, Recessive; MODY2; Maturity-Onset Diabetes Of The Young; Diabetes mellitus, noninsulin-dependent, late onset, 125853; Maturity-onset diabetes of the young (MODY); Permanent neonatal diabetes; MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 2; Diabetes mellitus, permanent neonatal, 606176; Permanent Neonatal Diabetes Mellitus; Hyperinsulinemic hypoglycemia, familial, 3, 602485; Diabetes mellitus, gestational, 125851; MODY, type II, 125851; Maturity Onset Diabetes of the Young for gene: GCK

18 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: GCK was added gene: GCK was added to Monogenic diabetes. Sources: Expert Review Green 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 Transient Neonatal Diabetes, Recessive; Permanent Neonatal Diabetes Mellitus (recessive); Maturity-onset diabetes of the young (MODY); Maturity Onset Diabetes of the Young (Dominant); MODY, type II, 125851; Maturity Onset Diabetes of the Young