ClinGen Dosage Sensitivity Curation Page

ITGB3

  • Curation Status: Complete

Location Information

Select assembly: (NC_000017.10) (NC_000017.11)
  • Haploinsufficiency score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity

Haploinsufficiency phenotype comments:

This score is based on the autism phenotype that has been proposed for this gene. Homozygous mutations in ITGB3 are associated with Glanzmann thrombasthenia (MIM:273800). PMID:22495309: O'Roak et al. (2012) found a de novo missense change in ITGB3 in a proband with autism. PMID:16724005: Weiss et al. (2006) showed an association of genetic variants in ITGB3 with with whole-blood serotonin level and autism susceptibility.

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