ClinGen Dosage Sensitivity Curation Page

EVX2

  • Curation Status: Complete

Location Information

Select assembly: (NC_000002.11) (NC_000002.12)
  • Haploinsufficiency score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity

Haploinsufficiency phenotype comments:

No disease association with just EVX2, but a 117 kb microdeletion at the 5' end of the HOXD gene cluster, which includes EVX2 and the HOXD9-HOXD13 genes, causes synpolydactyly (SPD), a dominantly inherited disease resulting in limb malformation. For more information, see PMID:11778160.

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