ClinGen Dosage Sensitivity Curation Page


  • Curation Status: Complete

Location Information

Select assembly: (NC_000008.10) (NC_000008.11)

Haploinsufficiency phenotype comments:

Variants in TRAPPC9 have been identified in individuals with autosomal recessive intellectual disability (OMIM 613192). Recently, a de novo missense variant in TRAPPC9, p. R970Q, has been identified in an individual diagnosed in schizophrenia (PMID: 24776741). Additional information is needed to determine the role heterozygous variants in TRAPPC9 may play in neurodevelopmental disorders.

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