TAPT1

Chr 4AR

transmembrane anterior posterior transformation 1

Also known as: CMVFR, OCLSBG

NCBI Gene: 202018 ENSG00000169762 UniProt: Q6NXT6 OMIM: 612758

The protein localizes to the centrosome and ciliary basal body and is essential for primary cilium formation and normal cartilage and bone development. Mutations cause osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type, a severe congenital skeletal disorder with undermineralization of the intrauterine skeleton. This condition follows autosomal recessive inheritance.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a highly conserved protein that localizes to the centrosome and/or ciliary basal body. Mutations in this gene disrupt Golgi morphology and trafficking and normal primary cilium formation and these mutations are congenitally manifested by severe undermineralization of the intra-uterine skeleton. A mutation in the mouse ortholog of this gene results in homeotic, posterior-to-anterior transformations of the axial skeleton which are similar to the phenotype of mouse homeobox C8 gene mutants. In mouse, this gene is thought to function downstream of homeobox C8 to transduce extracellular patterning information during axial skeleton development. [provided by RefSeq, Jan 2017]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck typeMIM #616897

Clinical highlights

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.56

LOEUF

LOF

Mechanism· G2P