Familial diabetes
Gene: GCK
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.
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
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.
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)
This gene has been classified as Green List (High Evidence).
Mode of inheritance for GCK was changed to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
GCK was added to Familial diabetespanel. Sources: Radboud University Medical Center, Nijmegen
GCK was added to Familial diabetespanel. Sources: UKGTN
GCK was added to Familial diabetespanel. Sources: Illumina TruGenome Clinical Sequencing Services
GCK was added to Familial diabetespanel. Sources: Emory Genetics Laboratory