Newborns additional phenotypes panel 1
Gene: KCNJ11EnsemblGeneIds (GRCh38): ENSG00000187486
EnsemblGeneIds (GRCh37): ENSG00000187486
OMIM: 600937, Gene2Phenotype
KCNJ11 is in 11 panels
2 reviews
Ivone Leong (Genomics England Curator)
Comment on list classification: Demoted from Green to Amber as per guidance from clinical expert.Created: 3 Jan 2024, 3:44 p.m. | Last Modified: 3 Jan 2024, 3:44 p.m.
Panel Version: 0.60
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: 0.29
PMID: 31464105 - dominant loss of channel function. 3 families PMID: 18596924 - 3 familiesCreated: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.26
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Amber
- Phenotypes
-
- Familial hyperinsulinemic hypoglycemia-2, autosomal dominant
- OMIM
- 600937
- Clinvar variants
- Variants in KCNJ11
- Penetrance
- None
- Panels with this gene
History Filter Activity
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: KCNJ11 were changed from Familial hyperinsulinemic hypoglycemia-2 to Familial hyperinsulinemic hypoglycemia-2, autosomal dominant
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: kcnj11 has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Mafalda Gomes (Genomics England Curator)Added phenotypes Familial hyperinsulinemic hypoglycemia-2 for gene: KCNJ11
Set mode of pathogenicity
Mafalda Gomes (Genomics England Curator)Mode of pathogenicity for gene: KCNJ11 was changed from Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments to None
Added New Source, Set Phenotypes, Status Update
Mafalda Gomes (Genomics England Curator)Source Expert Review Green was added to KCNJ11. Added phenotypes Familial hyperinsulinemic hypoglycemia-2 for gene: KCNJ11 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Removed Tag
Mafalda Gomes (Genomics England Curator)Tag GOF was removed from gene: KCNJ11.
Set Phenotypes
Mafalda Gomes (Genomics England Curator)Phenotypes for gene: KCNJ11 were changed from Familial hyperinsulinemic hypoglycemia-2; Diabetes, permanent neonatal 2, with or without neurologic features to Familial hyperinsulinemic hypoglycemia-2
Added New Source, Set Phenotypes, Status Update
Mafalda Gomes (Genomics England Curator)Source Expert Review Amber was added to KCNJ11. Added phenotypes Familial hyperinsulinemic hypoglycemia-2 for gene: KCNJ11 Rating Changed from No List (delete) to Amber List (moderate evidence)
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)
Added Tag
Mafalda Gomes (Genomics England Curator)Tag GOF tag was added to gene: KCNJ11.
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. 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