ClinGen Dosage Sensitivity Curation Page

KCNJ1

  • Curation Status: Complete

Location Information

  • 11q24.3
  • GRCh37/hg19 chr11: 128,707,909-128,737,268
  • View: NCBI | Ensembl | UCSC
  • GRCh38/hg38 chr11: 128,838,020-128,867,296
  • View: NCBI | Ensembl | UCSC
Select assembly: (NC_000011.9) (NC_000011.10)

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