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
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