ClinGen Dosage Sensitivity Curation Page


  • Curation Status: Complete

Location Information

Select assembly: (NC_000002.11) (NC_000002.12)
Evidence for haploinsufficiency phenotype
PubMed ID Description
12900906 Kan et al. (2003) [PubMed: 12900906] described a family in which a typical synpolydactyly phenotype was absent in the hands and the foot anomaly was similar to that described by Goodman et al. (1998). A frameshift deletion was found in the HOXD13 gene.
11778160 Goodman et al. (1998) [PubMed: 11778160] described 2 families with features of classic synpolydactyly in the hands and feet as well as a novel foot phenotype. All carriers of 1 of 2 deletion mutations in the HOXD13 gene had a rudimentary extra digit between the first and second metatarsals and often between the fourth and fifth metatarsals as well.
19060004 Fantini et al. (2009) [PubMed: 19060004] described a Greek family with syndactyly type II, fifth finger campto-clinodactyly, and occasional fifth toe camptodactyly, wherein affected family members were heterozygous for a mutation. The authors concluded that the G220V mutation did not produce a dominant-negative effect or a gain-of-function, but represented a dominant loss-of-function mutation revealing haploinsufficiency of HOXD13.

Haploinsufficiency phenotype comments:

Brachydactyly, Syndactyly, Synpolydactyly with foot anomalies, VACTERL association

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