Diabetes with additional phenotypes suggestive of a monogenic aetiology
Gene: GCK
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.
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.
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)
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.
Mode of inheritance for GCK was changed to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
Model of inheritance for gene GCK was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Model of inheritance for gene GCK was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Model of inheritance for gene GCK was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Model of inheritance for gene GCK was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Model of inheritance for gene GCK was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Model of inheritance for gene GCK was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Model of inheritance for gene GCK was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Model of inheritance for gene GCK was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Model of inheritance for gene GCK was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene GCK was changed to BIALLELIC, autosomal or pseudoautosomal
GCK was added to Diabetes with additional phenotypes suggestive of a monogenic aetiologypanel. Sources: UKGTN
GCK was added to Diabetes with additional phenotypes suggestive of a monogenic aetiologypanel. Sources: Emory Genetics Laboratory
Model of inheritance for gene GCK was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene GCK was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene GCK was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
GCK was added to Diabetes with additional phenotypes suggestive of a monogenic aetiologypanel. Sources: Illumina TruGenome Clinical Sequencing Services
GCK was added to Diabetes with additional phenotypes suggestive of a monogenic aetiologypanel. Sources: Radboud University Medical Center, Nijmegen