ClinGen Dosage Sensitivity Curation Page


  • Curation Status: Complete

Location Information

Select assembly: (NC_000004.11) (NC_000004.12)
  • Haploinsufficiency score: Gene associated with autosomal recessive phenotype
  • Strength of Evidence (disclaimer): Gene associated with autosomal recessive phenotype

Haploinsufficiency phenotype comments:

Homozygous or compound heterozygous mutations in EVC2 are a cause of Ellis-van Creveld syndrome (OMIM 225500), an autosomal recessive condition. Mutations include deletions, nonsense, frameshift, and other loss-of-function mutations and heterozygous carriers of these mutations are normal. Four individuals with Weyers acrofacial dysostosis have been reported to date with heterozygous truncating mutations in exon 22 of EVC2. These mutations result in truncated proteins that are not subject to nonsense-mediated decay. A dominant-negative effect is the likely mechanism of disease. See D'Asdio et al (2013, PMID: 23220543) for review of patients and discussion of mechanism.

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