Neonatal diabetes
Gene: KCNJ11The mode of inheritance of this gene has been updated to 'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted' following NHS Genomic Medicine Service approval.Created: 31 Jan 2023, 4:43 p.m. | Last Modified: 31 Jan 2023, 4:43 p.m.
Panel Version: 3.3
MOI should be changed from "BOTH monoallelic and biallelic, autosomal or pseudoautosomal" to "Monoallelic" as neonatal diabetes is associated with monoallelic inheritance. Both monoallelic and biallelic inheritance is associated with familial hyperinsulinemic hypoglycaemia.Created: 28 Feb 2022, 10:32 a.m. | Last Modified: 28 Feb 2022, 10:32 a.m.
Panel Version: 2.35
Comment on phenotypes: Previous phenotypes:
Hyperinsulinemic hypoglycemia, familial, 2, 601820;Diabetes, permanent neonatal, 606176;Diabetes mellitus, permanent neonatal, with neurologic features, 606176;{Diabetes mellitus, type 2, susceptibility to}, 125853;Diabetes mellitus, transient neonatal, 3, 610582;Transient Neonatal Diabetes, Dominant;Diabetes Mellitus, PermanentNeonatal;Diabetes Mellitus, Transient Neonatal, 3;Transient Neonatal diabetes mellitus (Dominant);Isolated permanent neonatal diabetes;isolated transient neonatal diabetes, neonatal diabetes and developmental delayCreated: 3 Mar 2021, 2:12 p.m. | Last Modified: 3 Mar 2021, 2:12 p.m.
Panel Version: 2.18
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.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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.
Tag Q1_22_MOI was removed from gene: KCNJ11.
Mode of inheritance for gene KCNJ11 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Tag Q1_22_MOI tag was added to gene: KCNJ11.
Phenotypes for gene: KCNJ11 were changed from Hyperinsulinemic hypoglycemia, familial, 2, 601820; Diabetes, permanent neonatal, 606176; Diabetes mellitus, permanent neonatal, with neurologic features, 606176; {Diabetes mellitus, type 2, susceptibility to}, 125853; Diabetes mellitus, transient neonatal, 3, 610582; Transient Neonatal Diabetes, Dominant; Diabetes Mellitus, PermanentNeonatal; Diabetes Mellitus, Transient Neonatal, 3; Transient Neonatal diabetes mellitus (Dominant); Isolated permanent neonatal diabetes; isolated transient neonatal diabetes, neonatal diabetes and developmental delay to Hyperinsulinemic hypoglycemia, familial, 2, 601820; Diabetes, permanent neonatal 2, with or without neurologic features, OMIM:618856; {Diabetes mellitus, type 2, susceptibility to}, OMIM:125853; Diabetes mellitus, transient neonatal, 3, OMIM:610582; Maturity-onset diabetes of the young, type 13, OMIM:616329
Phenotypes for gene: KCNJ11 were changed from Hyperinsulinemic hypoglycemia, familial, 2, 601820; Diabetes, permanent neonatal, 606176; Diabetes mellitus, permanent neonatal, with neurologic features, 606176; {Diabetes mellitus, type 2, susceptibility to}, 125853; Diabetes mellitus, transient neonatal, 3, 610582; Transient Neonatal Diabetes, Dominant; Diabetes Mellitus, PermanentNeonatal; Diabetes Mellitus, Transient Neonatal, 3; Transient Neonatal diabetes mellitus (Dominant) to Hyperinsulinemic hypoglycemia, familial, 2, 601820; Diabetes, permanent neonatal, 606176; Diabetes mellitus, permanent neonatal, with neurologic features, 606176; {Diabetes mellitus, type 2, susceptibility to}, 125853; Diabetes mellitus, transient neonatal, 3, 610582; Transient Neonatal Diabetes, Dominant; Diabetes Mellitus, PermanentNeonatal; Diabetes Mellitus, Transient Neonatal, 3; Transient Neonatal diabetes mellitus (Dominant); Isolated permanent neonatal diabetes; isolated transient neonatal diabetes, neonatal diabetes and developmental delay
Source NHS GMS was added to KCNJ11. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted panel to Version 1: 31st May 2017. This panel is largely aligned with the Exeter Molecular Genetics Laboratory neonatal diabetes screen. Note that 8 genes feature on the Exeter 8-gene panel for patients with 'neonatal diabetes and autoimmune disease' (FOXP3, IL2RA, ITCH, LRBA, SIRT1, STAT1, STAT3 and STAT5). ITCH, SIRT1, STAT1 and STAT5A/B do not feature on this panel following correspondance with Elisa De-Franco (University of Exeter Medical School) that, at the time of curation, none of the patients with mutations in ITCH, SIRT1, STAT1 and STAT5b had diabetes diagnosed in the neonatal period, and therefore there is currently insufficient evidence to include these genes in this neonatal diabetes panel.
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
This gene has been classified as Green List (High Evidence).
KCNJ11 was added to Neonatal diabetes diagnosed <6 monthspanel. Sources: Eligibility statement prior genetic testing
Model of inheritance for gene KCNJ11 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Model of inheritance for gene KCNJ11 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Model of inheritance for gene KCNJ11 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Model of inheritance for gene KCNJ11 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
KCNJ11 was added to Neonatal diabetes diagnosed <6 monthspanel. Sources: UKGTN
Model of inheritance for gene KCNJ11 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene KCNJ11 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
KCNJ11 was added to Neonatal diabetes diagnosed <6 monthspanel. Sources: Illumina TruGenome Clinical Sequencing Services
KCNJ11 was added to Neonatal diabetes diagnosed <6 monthspanel. Sources: Radboud University Medical Center, Nijmegen