ClinGen Dosage Sensitivity Curation Page


  • Curation Status: Complete

Location Information

Select assembly: (NC_000005.9) (NC_000005.10)
  • Haploinsufficiency score: 1
  • Strength of Evidence (disclaimer): Little evidence for dosage pathogenicity
Evidence for haploinsufficiency phenotype
PubMed ID Description
17875000 Haploinsufficiency for TERT causes shortened telomeres but without a strong correlation to the incidence of autosomal dominant dyskeratosis congenita (which is mainly caused by missense changes).
12629597 Loss of TERT may influence phenotype in Cri-du-chat
16284252 Loss of TERT may affect onset of autosomal dominant dyskeratosis congenita

Haploinsufficiency phenotype comments:

Heterozygous loss of TERT may be involved in the pathogenesis of Cri-du-chat but it's unclear. Single copy loss does lead to shortened telomeres, which in turn may affect the pathogenesis of autosomal dominant dyskeratosis congenita. Firm evidence to support either link is lacking. There is one report a loss-of-function mutation in a 60-year old man with pulmonary fibrosis but others with the same mutation did not manifest any phenotype (Proc. Nat. Acad. Sci. 104: 7552-7557, 2007), so this mutation is not considered useful for determining whether this gene should be targeted.

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