DEMO Diabetes neonatal onset
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: Isolated permanent neonatal diabetes; isolated transient neonatal diabetes, neonatal diabetes and developmental delay.Created: 11 Jan 2019, 4:27 p.m.
Comment on mode of inheritance: Mode of inheritance is homozygous for 'Hyperinsulinemic hypoglycemia, familial, 2, 601820' and heterozygous for MIM:610582, MIM:606176, MIM:616329 and MIM:125853.Created: 20 Apr 2017, 8:43 a.m.
Comment on list classification: Expert review Green plus >3 cases of KCNJ11 variants causing neonatal diabetes mellitus (MIM:610582 and MIM:606176). Plus part of the Exeter neonatal diabetes screen.Created: 20 Apr 2017, 8:35 a.m.
gene: KCNJ11 was added gene: KCNJ11 was added to DEMO Diabetes - neonatal onset. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Eligibility statement prior genetic testing,Expert Review Green,NHS GMS,UKGTN Mode of inheritance for gene: KCNJ11 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: KCNJ11 were set to Transient Neonatal Diabetes, Dominant; Isolated permanent neonatal diabetes; Diabetes Mellitus, Transient Neonatal, 3; Diabetes Mellitus, PermanentNeonatal; Transient Neonatal diabetes mellitus (Dominant); Diabetes mellitus, permanent neonatal, with neurologic features, 606176; isolated transient neonatal diabetes, neonatal diabetes and developmental delay; {Diabetes mellitus, type 2, susceptibility to}, 125853; Diabetes, permanent neonatal, 606176; Hyperinsulinemic hypoglycemia, familial, 2, 601820; Diabetes mellitus, transient neonatal, 3, 610582