Familial diabetes
Gene: 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: Diabetes.Created: 11 Jan 2019, 10:04 a.m.
Activating KCNJ11 mutations cause diabetesCreated: 23 Aug 2015, 4 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Variants in this GENE are reported as part of current diagnostic practice
This gene has been classified as Green List (High Evidence).
Mode of pathogenicity for KCNJ11 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 KCNJ11 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
KCNJ11 was added to Familial diabetespanel. Sources: Illumina TruGenome Clinical Sequencing Services
KCNJ11 was added to Familial diabetespanel. Sources: UKGTN
KCNJ11 was added to Familial diabetespanel. Sources: Radboud University Medical Center, Nijmegen