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  2. DEMO Diabetes neonatal onset
  3. KCNJ11
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DEMO Diabetes neonatal onset

Gene: KCNJ11

Green List (high evidence)
KCNJ11 (potassium voltage-gated channel subfamily J member 11)
EnsemblGeneIds (GRCh38): ENSG00000187486
EnsemblGeneIds (GRCh37): ENSG00000187486
OMIM: 600937, Gene2Phenotype
KCNJ11 is in 11 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: 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.
Created: 11 Jan 2019, 4:27 p.m.

Panel version: Imported from Diabetes - neonatal onset panel version 1.13

Sian Ellard (University of Exeter Medical School)

Green List (high evidence)

Created: 5 Nov 2017, 2:39 a.m.

Panel version: Imported from Diabetes - neonatal onset panel version 0

Rebecca Foulger (Genomics England curator)

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.
Created: 20 Apr 2017, 8:35 a.m.

Panel version: Imported from Diabetes - neonatal onset panel version 0.18

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • UKGTN
  • NHS GMS
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
Phenotypes
  • 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
OMIM
600937
Clinvar variants
Variants in KCNJ11
Penetrance
None
Panels with this gene

History Filter Activity

2 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

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