ClinGen Dosage Sensitivity Curation Page


  • Curation Status: Complete

Location Information

Select assembly: (NC_000002.11) (NC_000002.12)
  • Triplosensitivity score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity
Evidence for triplosensitivity phenotype
PubMed ID Description
22085900 Paper describes a large duplication involving MBD5 and other genes. MMADHC is at the boundary but authors do not discuss its involvement in the phenotype.

Triplosensitivity phenotype comment:

No focal duplications of MMADHC described. Larger overlapping duplications including MMADHC do not implicate MMADHC in clinical phenotypes.