Diabetes with additional phenotypes suggestive of a monogenic aetiology

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

2 reviews

Sian Ellard (University of Exeter Medical School)

Green List (high evidence)

Ellen McDonagh (Genomics England Curator)

Comment on mode of inheritance: Changed to be consistent with the Familial diabetes panel.
Created: 22 Jul 2016, noon
Comment on mode of pathogenicity: Reviewer comment on the Familial Diabetes panel: "Activating KCNJ11 mutations cause diabetes" -
Sian Ellard (University of Exeter Medical School), Aug. 23, 2015, 5 p.m.
Created: 22 Jul 2016, 11:59 a.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
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
  • {Diabetes mellitus, type 2, susceptibility to}, 125853
  • Diabetes mellitus, trans
  • Maturity Onset Diabetes of the Young
  • Transient Neonatal Diabetes, Dominant
  • Diabetes Mellitus, Permanent Neonatal
  • Diabetes Mellitus, Transient Neonatal, 3
  • Transient Neonatal diabetes mellitus (Dominant)
  • Maturity Onset Diabetes of the Young (Dominant)
  • Diabetes Mellitus, Permanent Neonatal diabetes mellitus (Dominant and recessive)
  • Transient Neonatal, 3
OMIM
600937
Clinvar variants
Variants in KCNJ11
Penetrance
Complete
Mode of Pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Panels with this gene

History Filter Activity

25 Jul 2016, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

25th July 2016: Panel revised acccording to expert review, further evidence sources and comparison with the Familial Diabetes version 1 panel. Promoted to version 1.

22 Jul 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for KCNJ11 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

22 Jul 2016, Gel status: 4

Set mode of pathogenicity

Ellen McDonagh (Genomics England Curator)

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

22 Jul 2016, Gel status: 4

Set mode of pathogenicity

Ellen McDonagh (Genomics England Curator)

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

22 Jul 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for KCNJ11 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

7 Jun 2016, Gel status: 4

Gene classified by Genomics England curator

Chris Boustred (Genomics England)

This gene has been classified as Green List (High Evidence).

17 Aug 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene KCNJ11 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

17 Aug 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene KCNJ11 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

17 Aug 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene KCNJ11 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

20 Jul 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene KCNJ11 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

20 Jul 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene KCNJ11 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

20 Jul 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene KCNJ11 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

17 Jul 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene KCNJ11 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

17 Jul 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene KCNJ11 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

17 Jul 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

KCNJ11 was added to Diabetes with additional phenotypes suggestive of a monogenic aetiologypanel. Sources: UKGTN

17 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene KCNJ11 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

17 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene KCNJ11 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

17 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

KCNJ11 was added to Diabetes with additional phenotypes suggestive of a monogenic aetiologypanel. Sources: Illumina TruGenome Clinical Sequencing Services

17 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

KCNJ11 was added to Diabetes with additional phenotypes suggestive of a monogenic aetiologypanel. Sources: Radboud University Medical Center, Nijmegen