ClinGen Dosage Sensitivity Curation Page


  • Curation Status: Complete

Location Information

Select assembly: (NC_000008.10) (NC_000008.11)

Haploinsufficiency phenotype comments:

Barel (2008), PMID: 18678320. A single report of a dominant gain-of-function missense mutation in this potassium channel gene causing maternally inherited Birk Barel mental retardation dysmorphism syndrome. The single mutation described in the report is a gain-of-function mutation that affects structural integrity of the potassium channel (dominant negative effect). Does not qualify as a loss of function mutation.

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