TCTN3

Chr 10AR

tectonic family member 3

Also known as: C10orf61, JBTS18, OFD4, TECT3

NCBI Gene: 26123 ENSG00000119977 UniProt: Q6NUS6 OMIM: 613847

This gene encodes a protein that is part of the tectonic-like complex required for ciliogenesis and sonic hedgehog signaling pathway function. Mutations cause Joubert syndrome 18 and orofaciodigital syndrome IV, both inherited in an autosomal recessive pattern. The gene shows tolerance to loss-of-function variants (LOEUF 1.04), and these ciliopathies typically affect the central nervous system, craniofacial structures, and digits.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a member of the tectonic gene family which functions in Hedgehog signal transduction and development of the neural tube. Mutations in this gene have been associated with Orofaciodigital Syndrome IV and Joubert Syndrom 18. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2012]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Joubert syndrome 18MIM #614815

Orofaciodigital syndrome IVMIM #258860

Clinical highlights

Gene-disease validity (ClinGen)

ciliopathy · ARDefinitivesufficient evidence for diagnostic panels

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

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Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.04

LOEUF

LOF

Mechanism· G2P