ClinGen Dosage Sensitivity Curation Page


  • Curation Status: Complete

Location Information

Select assembly: (NC_000018.9) (NC_000018.10)
  • Haploinsufficiency score: Gene associated with autosomal recessive phenotype
  • Strength of Evidence (disclaimer): Gene associated with autosomal recessive phenotype

Haploinsufficiency phenotype comments:

Defects in DYM are the cause of Dyggve-Melchior-Clausen dysplasia (DMC) and Smith-McCort dysplasia (SMS), two similar rare autosomal recessive osteochondrodysplasias. Most mutations identified in DMC predict a loss of function, while those identified in SMC are mainly missense mutations, presumably associated with residual DYM activity and a less severe phenotype. Of note, Two small intragenic duplications in the DYM gene were detected in two seperate DMC kindreds. These were expected to result in a premature termination codon and the transcripts destroyed by nonsense mediated decay with subsequent failure to produce a protein product (PMID: 16326827).

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

Triplosensitivity phenotype comment:

No Literature Identified.