ClinGen Dosage Sensitivity Curation Page
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HDAC4
- Curation Status: Complete
- id: ISCA-17025
- Date last evaluated: 2011-11-07
- Issue Type: ClinGen Gene Curation
- Gene type: protein-coding
- ClinGen: Search for information about HDAC4 at clinicalgenome.org
- Entrez Gene: https://www.ncbi.nlm.nih.gov/gene/9759
- OMIM: https://omim.org/entry/605314
- Gene Reviews: https://www.ncbi.nlm.nih.gov/books/NBK1158/?term=HDAC4
- ClinGen Haploinsufficiency Score: 1
- ClinGen Triplosensitivity Score: 0
- ExAC pLI score: 1.0
- See related regions:
- 2q37.3 terminal region (includes HDAC4)
Select assembly:
(NC_000002.11)
(NC_000002.12)
- Haploinsufficiency score: 1
- Strength of Evidence (disclaimer): Little evidence for dosage pathogenicity
- Haploinsufficiency Phenotype: CHROMOSOME 2q37 DELETION SYNDROME
| PubMed ID | Description |
|---|---|
| 20691407 | Williams et al. (2010) reports 2 cases of individuals with mutations in HDAC4 presenting with brachydactyly-mental retardation syndrome (BDMR). One case is a one bp insertion resulting in a premature stop codon (counted as 1). The second case is an intronic deletion that "probably alters splicing of exons 5 -6," but there is no supporting evidence that this mutation affects the expression of HDAC4 (count as 0). |
Haploinsufficiency phenotype comments:
Individuals with BDMR present with variable features including intellectual disability, developmental delays, short stature, and brachymetaphalangia.
- Triplosensitivity score: 0
- Strength of Evidence (disclaimer): No evidence for dosage pathogenicity