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Severe Paediatric Disorders

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 12 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: KCNJ11; Recommended initial gene rating: Green List (high evidence); Phenotypes: Diabetes mellitus, transient neonatal, 3, 610582 (3) | Diabetes, permanent neonatal, with or without neurologic features, 606176 (3) | Hyperinsulinemic hypoglycemia, familial, 2, 601820 (3) | Maturity-onset diabetes of the young, type 13, 616329 (3); Mode of inheritance: Autosomal dominant | Autosomal recessive, Autosomal dominant | Autosomal recessive | Autosomal dominant
Created: 20 Feb 2020, 5:21 p.m. | Last Modified: 20 Feb 2020, 5:21 p.m.
Panel Version: 0.12

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Diabetes mellitus, transient neonatal, 3, 610582
  • Maturity-onset diabetes of the young, type 13, 616329
  • Diabetes, permanent neonatal, with or without neurologic features, 606176
  • Hyperinsulinemic hypoglycemia, familial, 2, 601820
OMIM
600937
Clinvar variants
Variants in KCNJ11
Penetrance
None
Publications
Panels with this gene