ClinGen Dosage Sensitivity Curation Page


  • Curation Status: Complete

Location Information

Select assembly: (NC_000016.9) (NC_000016.10)
  • Haploinsufficiency score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity

Haploinsufficiency phenotype comments:

LITAF is associated with CMT type 1C, although pathogenicity is thought to be caused by missense variants, resulting in abnormal localization of the protein (PMID 21896645), and not related to loss of function. Focal deletions of this gene have not been reported, although there is a single case in DECIPHER (288371) that has a focal deletion, of unknown inheritance, classified as possibly pathogenic (and an additional likely benign variant) in a patient with a "learning disability." The Database of Genomic Variants also has both partial and whole gene deletions reported. Because of the lack of probands with a defined clinical phenotype, no case-control series, and no secondary evidence to support dosage sensitivity, further evidence is needed to assess the significance of focal deletions of LITAF.

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

Triplosensitivity phenotype comment:

Duplications of LITAF have not been reported, and the Database of Genomic Variants has a few observed duplications of the entire gene. Because of the lack of observations, further evidence is required to understand the significance of focal duplications of LITAF.