ClinGen Dosage Sensitivity Curation Page

HOXD9

  • 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:

Goodman et al reported a 117kb deletion involving HOXD9-HOXD13 and EVX2 in an individual with synpolydactyly (PMID:11778160). PMID:22140379 and PMID:21068127 support the association of a deletion of the HOXD cluster with Split Hand/Foot Malformation type 5 (SHFM5). However, no loss of function mutations in HOXD9 alone have been reported in association with this phenotype.

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

Triplosensitivity phenotype comment:

PMID:20648051 describes a duplication of the entire HOXD cluster and neighboring genes EVX2 and MTX2 associated with mesomelic dysplasia kantaputra type (MDK). PMID:20577005 supports this association with an additional family co-segregating MDK and a duplication of the HOXD cluster. However no focal duplication of HOXD9 alone has been reported to date.