ClinGen Dosage Sensitivity Curation Page

SPP2

  • Curation Status: Complete

Location Information

Select assembly: (NC_000002.11) (NC_000002.12)
  • Haploinsufficiency score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity

Haploinsufficiency phenotype comments:

Neale 2012 (PMID 22495311) reviews exonic de novo mutations in patients with autism spectrum disorders. Supplementary table includes one small frameshift deletion in SPP2 but does not specify if this finding is de novo or loss of function. Lui 2015 (PMID 26459573) repored family with autosomal dominant retinitis pigmentosa. Mutation proposed to have dominant negative effect.

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