Diabetes with additional phenotypes suggestive of a monogenic aetiology
Gene: KCNJ11EnsemblGeneIds (GRCh38): ENSG00000187486
EnsemblGeneIds (GRCh37): ENSG00000187486
OMIM: 600937, Gene2Phenotype
KCNJ11 is in 11 panels
2 reviews
Sian Ellard (University of Exeter Medical School)
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
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.
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for KCNJ11 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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
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
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for KCNJ11 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene classified by Genomics England curator
Chris Boustred (Genomics England)This gene has been classified as Green List (High Evidence).
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
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
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
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
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
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
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
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
Added New Source
Ellen McDonagh (Genomics England Curator)KCNJ11 was added to Diabetes with additional phenotypes suggestive of a monogenic aetiologypanel. Sources: UKGTN
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
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
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
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