TOE1

Chr 1AR

target of EGR1, exonuclease

Also known as: PCH7, TOE-1, hCaf1z

NCBI Gene: 114034 ENSG00000132773 UniProt: Q96GM8 OMIM: 613931

TOE1 encodes a poly(A)-specific ribonuclease that processes snRNA 3'-ends and regulates cell growth by inducing CDKN1A and TGF-beta expression. Mutations cause pontocerebellar hypoplasia type 7, an autosomal recessive disorder characterized by severe underdevelopment of the pons and cerebellum. The gene shows extreme intolerance to loss-of-function variants (pLI near 1), indicating that complete loss of function is likely incompatible with normal development.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

Enables poly(A)-specific ribonuclease activity and snRNA binding activity. Involved in snRNA 3'-end processing. Located in Cajal body and cytoplasm. Implicated in pontocerebellar hypoplasia type 7. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Pontocerebellar hypoplasia, type 7MIM #614969

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

1.46

LOEUF

LOF

Mechanism· G2P