Familial diabetes

Gene: GCK

Green List (high evidence)

GCK (glucokinase)
EnsemblGeneIds (GRCh38): ENSG00000106633
EnsemblGeneIds (GRCh37): ENSG00000106633
OMIM: 138079, Gene2Phenotype
GCK is in 7 panels

4 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: Neonatal diabetes; Fasting hyperglycaemia.
Created: 11 Jan 2019, 10:04 a.m.

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

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.

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
  • NHS GMS
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
Phenotypes
  • Maturity-onset diabetes of the young (MODY)
  • Maturity Onset Diabetes of the Young
  • MODY, type II, 125851
  • Transient Neonatal Diabetes, Recessive
  • Permanent Neonatal Diabetes Mellitus (recessive)
  • Maturity Onset Diabetes of the Young (Dominant)
OMIM
138079
Clinvar variants
Variants in GCK
Penetrance
Complete
Panels with this gene

History Filter Activity

7 Jun 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

7 Jun 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

28 Apr 2015, Gel status: 4

Added New Source

GEL ()

GCK was added to Familial diabetespanel. Sources: Radboud University Medical Center, Nijmegen

28 Apr 2015, Gel status: 3

Added New Source

GEL ()

GCK was added to Familial diabetespanel. Sources: UKGTN

28 Apr 2015, Gel status: 2

Added New Source

GEL ()

GCK was added to Familial diabetespanel. Sources: Illumina TruGenome Clinical Sequencing Services

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

GCK was added to Familial diabetespanel. Sources: Emory Genetics Laboratory