ClinGen Dosage Sensitivity Curation Page

See New Dosage Map New! The ClinGen Dosage Sensitivity curations and downloads that are available at this site are now also available at Click on the button to access Dosage Sensitivity in the context of ClinGen's other curated information, including Gene-Disease Validity and Clinical Actionability.


  • 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