ClinGen Dosage Sensitivity Curation Page
HOXD9
- Curation Status: Complete
- id: ISCA-3779
- Date last evaluated: 2012-02-22
- Issue Type: ClinGen Gene Curation
- Gene type: protein-coding
- ClinGen: Search for information about HOXD9 at clinicalgenome.org
- Entrez Gene: https://www.ncbi.nlm.nih.gov/gene/3235
- OMIM: https://omim.org/entry/142982
- ClinGen Haploinsufficiency Score: 0
- ClinGen Triplosensitivity Score: 0
- ExAC pLI score: 0.422
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.