Congenital hyperinsulinism
Gene: KCNJ11EnsemblGeneIds (GRCh38): ENSG00000187486
EnsemblGeneIds (GRCh37): ENSG00000187486
OMIM: 600937, Gene2Phenotype
KCNJ11 is in 11 panels
3 reviews
Ivone Leong (Genomics England Curator)
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: Hyperinsulinism.Created: 11 Jan 2019, 2:24 p.m.
Sian Ellard (University of Exeter Medical School)
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Ellen Thomas (Genomics England Curator)
Comment on mode of inheritance: Complex - mutations in this gene can cause a variety of disturbances of glucose metabolism. Requires expert review of individual results wrt the phenotype.Created: 12 Apr 2016, 7:56 a.m.
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
- Phenotypes
-
- Hyperinsulinism, Dominant/Recessive
- Hyperinsulinemic hypoglycemia, familial, 2, 601820
- OMIM
- 600937
- Clinvar variants
- Variants in KCNJ11
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source NHS GMS was added to KCNJ11. Rating Changed from Green List (high evidence) to Green List (high evidence)
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Ellen Thomas (Genomics England Curator)Mode of inheritance for KCNJ11 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added New Source
GEL ()KCNJ11 was added to Hyperinsulinismpanel. Sources: Radboud University Medical Center, Nijmegen
Added New Source
GEL ()KCNJ11 was added to Hyperinsulinismpanel. Sources: Illumina TruGenome Clinical Sequencing Services
Added New Source
GEL ()KCNJ11 was added to Hyperinsulinismpanel. Sources: UKGTN