Congenital hyperinsulinism

Gene: GCK

Green List (high evidence)

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

3 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: Autosomal dominant Hyperinsulinism.
Created: 11 Jan 2019, 2:24 p.m.

Sian Ellard (University of Exeter Medical School)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Variants in this GENE are reported as part of current diagnostic practice

Ellen Thomas (Genomics England Curator)

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.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Hyperinsulinism, Dominant
  • MODY, type II, 125851
OMIM
138079
Clinvar variants
Variants in GCK
Penetrance
Complete
Mode of Pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Panels with this gene

History Filter Activity

11 Jan 2019, Gel status: 3

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to GCK. Rating Changed from Green List (high evidence) to Green List (high evidence)

11 Apr 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

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

11 Apr 2016, Gel status: 3

Set mode of pathogenicity

Ellen Thomas (Genomics England Curator)

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

11 Apr 2016, Gel status: 3

Set Mode of Inheritance

Ellen Thomas (Genomics England Curator)

Mode of inheritance for GCK was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

28 Apr 2015, Gel status: 3

Added New Source

GEL ()

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

28 Apr 2015, Gel status: 2

Added New Source

GEL ()

GCK was added to Hyperinsulinismpanel. Sources: UKGTN

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

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