TNR

Chr 1AR

tenascin R

Also known as: NEDSTO, TN-R

NCBI Gene: 7143 ENSG00000116147 UniProt: Q92752 OMIM: 601995

The protein is a neural extracellular matrix glycoprotein that regulates neurite outgrowth, neural cell adhesion, and sodium channel clustering at nodes of Ranvier within the central nervous system. Biallelic mutations cause a neurodevelopmental disorder with nonprogressive spasticity and transient opisthotonus, inherited in an autosomal recessive pattern. The gene shows significant constraint against loss-of-function variants (LOEUF 0.34), suggesting intolerance to protein loss.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a member of the tenascin family of extracellular matrix glycoproteins. The encoded protein is restricted to the central nervous system. The protein may play a role in neurite outgrowth, neural cell adhesion and modulation of sodium channel function. It is a constituent of perineuronal nets. [provided by RefSeq, Aug 2013]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonusMIM #619653

Clinical highlights

Gene-disease validity (ClinGen)

neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus · ARDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

185

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.34

LOEUF· LoF intol.

Multiple*

Mechanism· predicted