Congenital hyperinsulinismGene: 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: Autosomal dominant Hyperinsulinism.
Created: 11 Jan 2019, 2:24 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Variants in this GENE are reported as part of current diagnostic practice
Comment on mode of pathogenicity: GCK causes hyperinsulinism via a GAIN OF FUNCTION mechanism so only particular missense variants are of relevance in this phenotype.
Created: 11 Apr 2016, 2 p.m.
Source NHS GMS was added to GCK. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
Mode of pathogenicity for GCK was changed to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Mode of inheritance for GCK was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
GCK was added to Hyperinsulinismpanel. Sources: Radboud University Medical Center, Nijmegen
GCK was added to Hyperinsulinismpanel. Sources: UKGTN
GCK was added to Hyperinsulinismpanel. Sources: Illumina TruGenome Clinical Sequencing Services