ClinGen Dosage Sensitivity Curation Page

SERPINB7

  • Curation Status: Complete

Location Information

Select assembly: (NC_000018.9) (NC_000018.10)

Haploinsufficiency phenotype comments:

Biallelic loss of function mutations in SERPINB7 are associated with autosomal recessive Nagashima-type palmoplantar kerotosis. One common mutation was found to be a founder mutation in Japanese and Chinese populations. See Kubo, 2013, PMID: 24207119; Mizuno, 2014, PMID: 24773080; Yin, 2014, PMID: 24514002; Kubo, 2014, PMID: 25029323.

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