ClinGen Dosage Sensitivity Curation Page

CNOT3

  • Curation Status: Complete

Location Information

Select assembly: (NC_000019.9) (NC_000019.10)
  • Haploinsufficiency score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity

Haploinsufficiency phenotype comments:

There are no publications at present describing germline CNOT3 deletions or other types of loss-of-function mutations. De Keersmaecker et al identified CNOT3 as a tumor suppressor mutated in 7.9% of adult T-ALLs, and its knockdown caused tumors in a sensitized Drosophila melanogaster model (PMID: 23263491). Richter-Pecha?ska et al. found CNOT3 mutations in pediatric T-ALL relapses (PMID: 28157215).

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

Triplosensitivity phenotype comment:

There are no publications at present describing germline CNOT3 duplications.