ClinGen Dosage Sensitivity Curation Page

RCAN1

  • Curation Status: Complete

Location Information

Select assembly: (NC_000021.8) (NC_000021.9)
  • Haploinsufficiency score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity
  • Triplosensitivity score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity

Triplosensitivity phenotype comment:

PMID:20101688 Eggermann et al. found a paternally inherited ~0.5 Mb duplication including RCAN1 and KCNE1 in a patient with Silver-Russell syndrome, but cardiac abnormalities or other DS features were not present.