ClinGen Dosage Sensitivity Curation Page

ROBO1

  • Curation Status: Complete

Location Information

Select assembly: (NC_000003.11) (NC_000003.12)
  • Haploinsufficiency score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity
Evidence for haploinsufficiency phenotype
PubMed ID Description
16254601 Hannula-Jouppi et al. (2005): The authors propose that two functional copies of ROBO1 are required in brain development to acquire normal reading ability, and partial haploinsufficiency for ROBO1 may predispose humans to specific dyslexia. This was based upon the finding of a disruption by translocation of ROBO1 in dyslexic patient, and the finding of allele-specific, reduced expression in dyslexic individuals of a large pedigree.

Haploinsufficiency phenotype comments:

There is currently no additional published support for haploinsufficiency of ROBO1. It remains a candidate gene for dyslexia, primarily through association studies.

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