ClinGen Dosage Sensitivity Curation Page

DNAJB6

  • Curation Status: Complete

Location Information

Select assembly: (NC_000007.13) (NC_000007.14)
  • Haploinsufficiency score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity
  • Triplosensitivity score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity

Triplosensitivity phenotype comment:

While duplications of DNAJB6 have not been described in association with clinical phenotypes, heterozygous point mutations in DNAJB6 cause limb-girdle muscular dystrophy type 1E (LGMD1E) (MIM 603511), an adult-onset degenerative myopathy, by a pathogenic mechanism of toxic gain-of-function [see PMIDs 22334415, 22366786].