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  2. Newborns additional phenotypes panel 2
  3. KCNJ11
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Newborns additional phenotypes panel 2

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: Internal inclusion list only
Created: 26 Sep 2024, 3:45 p.m. | Last Modified: 25 Oct 2024, 10:45 a.m.
Panel Version: 0.27
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, 3:45 p.m. | Last Modified: 18 Nov 2025, 3:50 p.m.
Panel Version: 0.27
Created: 26 Sep 2024, 3:45 p.m.
Last Modified: 18 Nov 2025, 3:50 p.m.
Panel version: 0.27

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is gain-of-function (GOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.8
KCNJ11 curation results (clinicalgenome.org)
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.5
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.8

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Diabetes, permanent neonatal 2, with or without neurologic features
Tags
special_consideration internal_inclusion_list_only
OMIM
600937
Clinvar variants
Variants in KCNJ11
Penetrance
None
Mode of Pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
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.

5 Feb 2024, Gel status: 3

Added Tag

Ivone Leong (Genomics England Curator)

Tag internal_inclusion_list_only tag was added to gene: KCNJ11.

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Diabetes, permanent neonatal 2, with or without neurologic features for gene: KCNJ11

5 Jul 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Diabetes, permanent neonatal 2, with or without neurologic features for gene: KCNJ11

31 May 2023, Gel status: 3

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

Mafalda Gomes (Genomics England Curator)

gene: KCNJ11 was added gene: KCNJ11 was added to Newborns additional phenotypes panel 2. Sources: Expert Review Green Mode of inheritance for gene: KCNJ11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: KCNJ11 were set to Diabetes, permanent neonatal 2, with or without neurologic features Mode of pathogenicity for gene: KCNJ11 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments