ClinGen Dosage Sensitivity Curation Page


  • Curation Status: Complete

Location Information

Select assembly: (NC_000015.9) (NC_000015.10)

Haploinsufficiency phenotype comments:

Mutations affecting both copies of TRIP4 are associated with autosomal recessive spinal muscular atrophy with congenital bone fractures 1 (SMABF1); functional studies support bi-allelic loss-of-function as the mutational mechanism for this condition.

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