ClinGen Dosage Sensitivity Curation Page


  • Curation Status: Complete

Location Information

Select assembly: (NC_000002.11) (NC_000002.12)
  • Haploinsufficiency score: 1
  • Strength of Evidence (disclaimer): Little evidence for dosage pathogenicity
Evidence for haploinsufficiency phenotype
PubMed ID Description
21382177 Exonic deletion of CASP10 resulted in a frame shift with an early stop codon was detected in a patient presenting with systemic juvenile idiopathic arthritis. Systemic juvenile idiopathic arthritis (s-JIA) is a rare inflammatory disease classified as a subtype of chronic childhood arthritis. Tadaki H et al. performed single nucleotide polymorphism (SNP) array analysis in 50 patients with s-JIA, and found a 13-kb intragenic deletion of CASP10 in one patient. The deletion was also found in a the patient's father and sister who were asymptomatic.

Haploinsufficiency phenotype comments:

Variants in CASP10 cause autoimmune lymphoproliferative syndrome through a likely dominant negative mechanism. A single report of an exonic deletion leading to a frameshift was reported in one patient with systemic juvenile idiopathic arthritis (Tadaki H et al.). The deletion was inherited from a normal parent. Of note, SNPs polymorphism of CASP10 were found to be associated with risk of gastric cancers, cardia adenocarcinomas, and gastric noncardia adenocarcinomas (PMID 23921907). SNPs loci of CASP10 were also identified associated with susceptibility of chronic lymphocytic leukemia or small lymphocytic lymphoma (PMID 23770605), breast cancer (PMID 23212337), and cutaneous melanoma (PMID 18563783).

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

Triplosensitivity phenotype comment:

no evidence of triplosensitivity