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_000017.10) (NC_000017.11)
  • Haploinsufficiency score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity

Haploinsufficiency phenotype comments:

Changes in CARD14 have been associated with pityriasis rubra pilaris (PRP). Although most cases of PRP are simplex cases, familial cases demonstrate autosomal-dominant inheritance with an early age of onset, incomplete penetrance, and variable expressivity. Changes in CARD14 have also been reported in psoriasis susceptibility 2 (PSORS2). Fuchs-Telem et al. (2012) (PMID: 22703878) described three mutations ascertained in 4 unrelated families with PRP. Immunostaining for CARD14 on skin biopsies from mutation-positive, PRP-affected individuals revealed increased staining for CARD14 amongst affected individuals compared to wild-type. Similarly, Jordan et al. (2012) discuss missense mutations identified amongst individuals with PSORS2, and propose a mechanism by which "rare gain-of-function mutations in CARD14 initiate a process that includes inflammatory cell recruitment by keratinocytes. This perpetuates a vicious cycle of epidermal inflammation and regeneration, a cycle which is the hallmark of psoriasis." (PMID: 22521418).

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