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Newborns main 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

2 reviews

Arina Puzriakova (Genomics England Curator)

Special Consideration: Multiple phenotypes with different MOIs included.

Additional Information: Two phenotypes included in the study - AD neonatal diabetes (GOF - internal inclusion list only) and hyperinsulinemic hypoglycemia (LOF).
Created: 26 Sep 2024, 3:44 p.m. | Last Modified: 18 Nov 2025, 3:50 p.m.
Panel Version: 0.480
Created: 26 Sep 2024, 3:44 p.m.
Last Modified: 18 Nov 2025, 3:50 p.m.
Panel version: 0.469

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
PMID: 36410788 - 1 case, PMID: 27181099 - 1 case. PMID: 34927408 - 3 cases. PMID: 23345197 - 6 cases
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Familial hyperinsulinemic hypoglycemia-2, autosomal recessive
Tags
special_consideration
OMIM
600937
Clinvar variants
Variants in KCNJ11
Penetrance
None
Panels with this gene

History Filter Activity

26 Sep 2024, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag special_consideration tag was added to gene: KCNJ11.

6 Feb 2024, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: KCNJ11 were changed from Familial hyperinsulinemic hypoglycemia-2 to Familial hyperinsulinemic hypoglycemia-2, autosomal recessive

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Familial hyperinsulinemic hypoglycemia-2 for gene: KCNJ11

5 Jul 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Familial hyperinsulinemic hypoglycemia-2 for gene: KCNJ11

31 May 2023, Gel status: 3

Added New Source, Set mode of inheritance, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to KCNJ11. Mode of inheritance for gene KCNJ11 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Familial hyperinsulinemic hypoglycemia-2 for gene: KCNJ11 Rating Changed from No List (delete) to Green List (high evidence)

5 May 2023, Gel status: 0

Added New Source, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Removed was added to KCNJ11. Rating Changed from Green List (high evidence) to No List (delete)

9 Mar 2023, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Mafalda Gomes (Genomics England Curator)

gene: KCNJ11 was added gene: KCNJ11 was added to Newborns main panel. Sources: Expert Review Green Mode of inheritance for gene: KCNJ11 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Phenotypes for gene: KCNJ11 were set to Familial hyperinsulinemic hypoglycemia-2