ClinGen Dosage Sensitivity Curation Page

CPA4

  • Curation Status: Complete

Location Information

Select assembly: (NC_000007.13) (NC_000007.14)
  • Haploinsufficiency score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity

Haploinsufficiency phenotype comments:

Due to its imprinted status and location within a Russel-Silver syndrome putative locus, Kayashima et al., 2003 [PMID 12552318] investigated, but failed to identify any CPA4 mutations in 10 patients with RSS, arguing against a pathogenic role for this gene, at least in RSS. This gene was originally targeted since it is an imprinted gene.

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