ClinGen Dosage Sensitivity Curation Page


  • Curation Status: Complete

Location Information

Select assembly: (NC_000003.11) (NC_000003.12)
  • Haploinsufficiency score: 1
  • Strength of Evidence (disclaimer): Little evidence for dosage pathogenicity
Evidence for haploinsufficiency phenotype
PubMed ID Description
12073012 case report of a patient with midline anomalies of the forebrain and a missense mutation in the conserved CFC domain of TDGF1. Functional analysis indicated that the mutation resulted in a loss-of-function. Further studies are needed to determine whether haploinsufficiency for TDGF1 is clinically relevant
  • Triplosensitivity score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity