Congenital hyperinsulinismGene: KCNJ11
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: KCNJ11; 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: Hyperinsulinism.
Created: 11 Jan 2019, 2:24 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Comment on mode of inheritance: Complex - mutations in this gene can cause a variety of disturbances of glucose metabolism. Requires expert review of individual results wrt the phenotype.
Created: 12 Apr 2016, 7:56 a.m.
Source NHS GMS was added to KCNJ11. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
Mode of inheritance for KCNJ11 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
KCNJ11 was added to Hyperinsulinismpanel. Sources: Radboud University Medical Center, Nijmegen
KCNJ11 was added to Hyperinsulinismpanel. Sources: Illumina TruGenome Clinical Sequencing Services
KCNJ11 was added to Hyperinsulinismpanel. Sources: UKGTN