PRDM12
Chr 9ARPR/SET domain 12
Also known as: HSAN8, PFM9
This gene encodes a transcriptional regulator that is essential for the development and function of nociceptive (pain-sensing) neurons, activating pro-neuronal transcription factors like NEUROD1 and ISL1 specifically within pain neurons. Mutations cause hereditary sensory and autonomic neuropathy type VIII, characterized by congenital insensitivity to pain due to impaired peripheral sensory neuron development and function. The condition follows autosomal recessive inheritance, and the gene is highly constrained against loss-of-function variants (pLI 0.93, LOEUF 0.37).
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
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
PRDM12 · 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
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools