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  3. KCNJ11
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Neonatal diabetes - small panel

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

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIMs #610582 & #618856) and the OMIM records were last accessed on 29 December 2025.
Created: 29 Dec 2025, 11:05 a.m. | Last Modified: 29 Dec 2025, 11:05 a.m.
Panel Version: 1.5
KCNJ11 has been added to the panel for R143.1 Neonatal diabetes with a green rating as agreed with the NHS Genomic Medicine Service.
Created: 30 Jun 2023, 2:58 p.m. | Last Modified: 26 Sep 2023, 1:07 p.m.
Panel Version: 1.2

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Created: 30 Jun 2023, 2:58 p.m.
Last Modified: 26 Sep 2023, 1:07 p.m.
Panel version: 0.1

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Diabetes mellitus, transient neonatal 3, OMIM:610582
  • Diabetes, permanent neonatal 2, with or without neurologic features, OMIM:618856
  • diabetes mellitus, transient neonatal, 3, MONDO:0012522
  • diabetes mellitus, permanent neonatal 2, MONDO:0030087
OMIM
600937
Clinvar variants
Variants in KCNJ11
Penetrance
None
Panels with this gene

History Filter Activity

29 Dec 2025, Gel status: 3

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: KCNJ11 were changed from to Diabetes mellitus, transient neonatal 3, OMIM:610582; Diabetes, permanent neonatal 2, with or without neurologic features, OMIM:618856; diabetes mellitus, transient neonatal, 3, MONDO:0012522; diabetes mellitus, permanent neonatal 2, MONDO:0030087

30 Jun 2023, Gel status: 3

Created, Added New Source, Set mode of inheritance

Achchuthan Shanmugasundram (Genomics England Curator)

gene: KCNJ11 was added gene: KCNJ11 was added to Neonatal diabetes - small panel. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: KCNJ11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown