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ACCPN

Chr 15

agenesis of corpus callosum and peripheral neuropathy (Andermann syndrome)

NCBI Gene: 8124

ACCPN encodes a protein involved in axon guidance and neuronal development. Mutations cause agenesis of the corpus callosum with peripheral neuropathy, a disorder affecting both central nervous system development and peripheral nerve function. This condition follows autosomal recessive inheritance.

GeneReviews ResearchSummary from OMIM

GeneReviews ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

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LOEUF

LOF

Mechanism· G2P

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GeneReview available — ACCPN