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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 11 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

History Filter Activity

21 Feb 2020, Gel status: 3

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

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

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene KCNJ11 were updated from to 30847515

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added 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 for gene: KCNJ11

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added 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 for gene: KCNJ11

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added 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 for gene: KCNJ11

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Hyperinsulinemic hypoglycemia, familial, 2, 601820; Diabetes, permanent neonatal, with or without neurologic features, 606176; Diabetes mellitus, transient neonatal, 3, 610582; Maturity-onset diabetes of the young, type 13, 616329 for gene: KCNJ11

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to KCNJ11.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to KCNJ11. Rating Changed from Red List (low evidence) to Green List (high evidence)

14 Feb 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: KCNJ11 was added gene: KCNJ11 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: KCNJ11 was set to