Diabetes with additional phenotypes suggestive of a monogenic aetiology
Gene: GCKEnsemblGeneIds (GRCh38): ENSG00000106633
EnsemblGeneIds (GRCh37): ENSG00000106633
OMIM: 138079, Gene2Phenotype
GCK is in 8 panels
4 reviews
Sian Ellard (University of Exeter Medical School)
Chris Boustred (Genomics England)
Comment when marking as ready: Known MODY gene, 4 gene panel sources, expert reviews and strong literature evidenceCreated: 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 unknownCreated: 17 Jul 2015, 3:05 p.m.
Ellen Thomas (Genomics England)
Monoallelic - lifelong stable fasting hyperglycaemia
Biallelic - permanent neonatal diabetesCreated: 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
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.
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
Gene classified by Genomics England curator
Chris Boustred (Genomics England)This gene has been classified as Green List (High Evidence).
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
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
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
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
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
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
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
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
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
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene GCK was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)GCK was added to Diabetes with additional phenotypes suggestive of a monogenic aetiologypanel. Sources: UKGTN
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
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene GCK was changed to BIALLELIC, autosomal or pseudoautosomal
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene GCK was changed to BIALLELIC, autosomal or pseudoautosomal
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
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
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