ClinGen Dosage Sensitivity Curation Page

KCNQ1

  • Curation Status: Complete

Location Information

Select assembly: (NC_000011.9) (NC_000011.10)
Evidence for haploinsufficiency phenotype
PubMed ID Description
18774102 Barc (2011): Describes a single 2 exon deletion in a patient with long QT syndrome type 1.
18774102 Eddy (2008): Describes a single 2 exon deletion resulting in a frameshift and premature stop codon in a patient with long QT syndrome type 1.
15840476 Tester (2005): Describes 88 patients with long QT syndrome and various mutations. Fourteen of these are either nonsense or frameshift mutations.

Haploinsufficiency phenotype comments:

Heterozygous loss of function mutations can cause long QT syndrome type 1. Homozygous mutations result in the recessive condition Jervell and Lange-Nielsen syndrome. Note: The overall evidence supporting the association between Jervell and Lange-Nielsen syndrome has been expert reviewed by the ClinGen Hearing Loss Working Group and classified as DEFINITIVE.

  • Triplosensitivity score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity