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  2. DEMO Diabetes neonatal onset
  3. GCK
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DEMO Diabetes neonatal onset

Gene: GCK

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

6 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

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: Fasting hyperglycaemia, permanent neonatal diabetes.
Created: 11 Jan 2019, 4:27 p.m.
Created: 11 Jan 2019, 4:27 p.m.

Panel version: Imported from Diabetes - neonatal onset panel version 1.13

Sian Ellard (University of Exeter Medical School)

Green List (high evidence)

Created: 5 Nov 2017, 2:39 a.m.

Panel version: Imported from Diabetes - neonatal onset panel version 0

Elisa De Franco (University of Exeter Medical School)

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Created: 29 May 2017, 8:34 a.m.

Panel version: Imported from Diabetes - neonatal onset panel version 0.130

Rebecca Foulger (Genomics England curator)

Comment when marking as ready: Marked as Ready: 25th May 2017.
Created: 25 May 2017, 10:17 a.m.
Comment on list classification: Kept rating as Green: 2 cases (Norweigan and Italian) of permanent neonatal diabetes (MIM:606176) plus multiple cases of neonatal hypoglycemia. Rated green by expert reviewer, and part of Exeter neonatal diabetes screen.
Created: 25 May 2017, 10:17 a.m.
Comment on mode of inheritance: Heterozygous GCK mutations cause MODY, and homozygous mutations cause neonatal diabetes. Based on advice from Elisa De-Franco (University of Exeter Medical School), I have changed the mode-of-inheritance from biallelic to both biallelic and monoallelic: in patients with heterozygous GCK mutations the fasting hyperglycemia is present from birth. So it is possible that (rarely) a patient is incidentally found to have high blood sugars in the neonatal period and thought to have neonatal diabetes, but they actually have GCK MODY.
Created: 25 May 2017, 10:15 a.m.
Comment on mode of inheritance: Heterozygous GCK mutations cause MODY, and homozygous mutations cause neonatal diabetes. Based on advice from Elisa De-Franco (University of Exeter Medical School), I have changed the mode-of-inheritance from biallelic to both biallelic and monoallelic: in patients with heterozygous GCK mutations the fasting hyperglycemia is present from birth. So it is possible that (rarely) a patient is incidentally found to have high blood sugars in the neonatal period and thought to have neonatal diabetes, but they actually have GCK MODY.
Created: 25 May 2017, 10:15 a.m.
Created: 25 May 2017, 10:15 a.m.

Panel version: Imported from Diabetes - neonatal onset panel version 0.122

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, autosomal or pseudoautosomal
Sources
  • UKGTN
  • NHS GMS
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
Phenotypes
  • Permanent neonatal diabetes
  • MODY, type II, 125851
  • Permanent Neonatal Diabetes Mellitus
  • Transient Neonatal Diabetes, Recessive
  • Diabetes mellitus, permanent neonatal, 606176
  • Diabetes mellitus, noninsulin-dependent, late onset, 125853
  • Fasting hyperglycaemia, permanent neonatal diabetes
  • Hyperinsulinemic hypoglycemia, familial, 3, 602485
  • Diabetes mellitus, gestational, 125851
OMIM
138079
Clinvar variants
Variants in GCK
Penetrance
None
Panels with this gene

History Filter Activity

2 Dec 2019, Gel status: 3

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

Ellen McDonagh (Genomics England Curator)

gene: GCK was added gene: GCK was added to DEMO Diabetes - neonatal onset. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Eligibility statement prior genetic testing,Expert Review Green,NHS GMS,UKGTN Mode of inheritance for gene: GCK was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: GCK were set to Permanent neonatal diabetes; MODY, type II, 125851; Permanent Neonatal Diabetes Mellitus; Transient Neonatal Diabetes, Recessive; Diabetes mellitus, permanent neonatal, 606176; Diabetes mellitus, noninsulin-dependent, late onset, 125853; Fasting hyperglycaemia, permanent neonatal diabetes; Hyperinsulinemic hypoglycemia, familial, 3, 602485; Diabetes mellitus, gestational, 125851