Diabetes with additional phenotypes suggestive of a monogenic aetiology

Gene: GCK

Green List (high evidence)

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

4 reviews

Sian Ellard (University of Exeter Medical School)

Green List (high evidence)

Chris Boustred (Genomics England)

Comment when marking as ready: Known MODY gene, 4 gene panel sources, expert reviews and strong literature evidence
Created: 8 Jun 2016, 7:34 a.m.

Ellen McDonagh (Genomics England Curator)

Mode of inheritance from Illumina: Maturity Onset Diabetes of the Young = MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown. Permanent Neonatal Diabetes Mellitus and Transient Neonatal Diabetes, Recessive = BIALLELIC, autosomal or pseudoautosomal. Mode of inheritance from UKGTN: Permanent neonatal diabetes = BIALLELIC, autosomal or pseudoautosomal, "MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 2 = MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Created: 17 Jul 2015, 3:05 p.m.

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)

Details

Mode of Inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • MODY, type II, 125851
  • Diabetes mellitus, noninsulin-dependent, late onset, 125853
  • Diabetes mellitus, gestational, 125851
  • Hyperinsulinemic hypoglycemia, familial, 3, 602485
  • Diabetes mellitus, permanent neonatal, 606176
  • Maturity Onset Diabetes of the Young
  • Permanent Neonatal Diabetes Mellitus
  • Transient Neonatal Diabetes, Recessive
  • Maturity-onset diabetes of the young (MODY)
  • Maturity-Onset Diabetes Of The Young
  • Permanent neonatal diabetes
  • MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 2
  • MODY2
OMIM
138079
Clinvar variants
Variants in GCK
Penetrance
Complete
Panels with this gene

History Filter Activity

25 Jul 2016, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

25th July 2016: Panel revised acccording to expert review, further evidence sources and comparison with the Familial Diabetes version 1 panel. Promoted to version 1.

22 Jul 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

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

8 Jun 2016, Gel status: 4

Gene classified by Genomics England curator

Chris Boustred (Genomics England)

This gene has been classified as Green List (High Evidence).

17 Aug 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene GCK was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

17 Aug 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene GCK was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

17 Aug 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene GCK was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

17 Aug 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene GCK was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

20 Jul 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene GCK was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

20 Jul 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene GCK was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

20 Jul 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene GCK was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

20 Jul 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene GCK was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

17 Jul 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene GCK was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

17 Jul 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene GCK was changed to BIALLELIC, autosomal or pseudoautosomal

17 Jul 2015, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

GCK was added to Diabetes with additional phenotypes suggestive of a monogenic aetiologypanel. Sources: UKGTN

17 Jul 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

GCK was added to Diabetes with additional phenotypes suggestive of a monogenic aetiologypanel. Sources: Emory Genetics Laboratory

17 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene GCK was changed to BIALLELIC, autosomal or pseudoautosomal

17 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene GCK was changed to BIALLELIC, autosomal or pseudoautosomal

17 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene GCK was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

17 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

GCK was added to Diabetes with additional phenotypes suggestive of a monogenic aetiologypanel. Sources: Illumina TruGenome Clinical Sequencing Services

17 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

GCK was added to Diabetes with additional phenotypes suggestive of a monogenic aetiologypanel. Sources: Radboud University Medical Center, Nijmegen