HDAC8
Chr XXLDhistone deacetylase 8
This histone deacetylase catalyzes the deacetylation of lysine residues in histone N-terminal tails, repressing transcription in large multiprotein complexes. Loss-of-function mutations cause Cornelia de Lange syndrome 5, inherited in an X-linked dominant pattern. The high constraint scores (pLI 0.98, LOEUF 0.30) indicate the gene is highly intolerant to loss-of-function variants.
Definitive — sufficient evidence for diagnostic panels
Some data sources returned errors (1)
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Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Moderately missense-constrained (top ~2.5%)
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
HDAC8 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
External Resources
Links to major genomics databases and tools