ClinGen Dosage Sensitivity Curation Page
KCNJ1
- Curation Status: Complete
- id: ISCA-16333
- Date last evaluated: 2012-03-22
- Issue Type: ClinGen Gene Curation
- Gene type: protein-coding
- ClinGen: Search for information about KCNJ1 at clinicalgenome.org
- Entrez Gene: https://www.ncbi.nlm.nih.gov/gene/3758
- OMIM: https://omim.org/entry/600359
- ClinGen Haploinsufficiency Score: Gene associated with autosomal recessive phenotype
- ClinGen Triplosensitivity Score: 0
- ExAC pLI score: 0.002
- See related regions:
- 11q23q25 terminal (Jacobsen syndrome) region
Select assembly:
(NC_000011.9)
(NC_000011.10)
- Haploinsufficiency score: Gene associated with autosomal recessive phenotype
- Strength of Evidence (disclaimer): Gene associated with autosomal recessive phenotype
- Haploinsufficiency Phenotype: BARTTER SYNDROME, TYPE 2, ANTENATAL; BARTS2
Haploinsufficiency phenotype comments:
Homozygous loss of function mutations in KCNJ1 cause the autosomal recessive condition antenatal Bartter syndrome, type 2. Tyson et al, 2008, PMID: 19000322 report two patients with intellectual disability who have large deletions that include KCNJ1. One patient also has a large duplication of 11q24.2q25 material. All imbalances were de novo. The deletions included many other genes. The authors compare phenotypes to Jacobsen syndrome.
- Triplosensitivity score: 0
- Strength of Evidence (disclaimer): No evidence for dosage pathogenicity