ClinGen Dosage Sensitivity Curation Page


  • Curation Status: Complete

Location Information

Select assembly: (NC_000013.10) (NC_000013.11)
Evidence for haploinsufficiency phenotype
PubMed ID Description
21131976 Dauwerse et al. (2011) describe 17 mutations in POLR1D detected in 20 unrelated individuals with clinical diagnoses of Treacher-Collins syndrome and no mutations in TCOF1, including 10 different nonsense mutations. This group also describes a 156 kb de novo deletion encompassing all of POLR1D and the first exon of LNX2. The mutations segregated with disease in familial cases. Two families demonstrated reduced penetrance.

Haploinsufficiency phenotype comments:

Since there has only been one publication reporting mutations in this gene in association with the Treacher-Collins phenotype, we have given it a haploinsufficiency score of 2. The existing evidence, however, is compelling enough to warrant targeting at the exon level.

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