ClinGen Dosage Sensitivity Curation Page


  • Curation Status: Complete

Location Information

Select assembly: (NC_000017.10) (NC_000017.11)
  • Haploinsufficiency score: 2
  • Strength of Evidence (disclaimer): Some evidence for dosage pathogenicity
Evidence for haploinsufficiency phenotype
PubMed ID Description
17632510 Douglas et al. 2007 screened 12 genes in the NF1 microdeletion interval for mutations in 245 individuals with overgrowth and learning disability phenotypes. They found 4 truncating mutations in RNF135 in patients (Q243X, L248fs, and V339fs-observed in 2 patients), but no truncating mutations in 510 normal individuals. All mutations were inherited, and some mutation carriers did not display LD, but did show apparent macrocephaly, suggesting variable penetrance.
  • Triplosensitivity score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity