Multi-organ autoimmune diabetes
Gene: KCNJ11

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

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Removed due to expert review.
Created: 22 Jul 2016, 3:03 p.m.

Created: 22 Jul 2016, 3:03 p.m.

Panel version: 0.17

Sian Ellard (University of Exeter Medical School)

Remove gene from panel
Created: 8 Dec 2015, 2:32 p.m.

Created: 8 Dec 2015, 2:32 p.m.

Panel version: 0

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Removed
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
Maturity Onset Diabetes of the Young
Transient Neonatal Diabetes, Dominant
Monogenic Diabetes
Diabetes Mellitus, Transient Neonatal, 3
Diabetes Mellitus, Permanent Neonatal
Neonatal Diabetes

Tags

curated_removed

OMIM

600937

Clinvar variants

Variants in KCNJ11

Penetrance

Complete

Panels with this gene

History Filter Activity

26 Feb 2021, Gel status: 0

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag curated_removed tag was added to gene: KCNJ11.

25 Jul 2016, Gel status: 0