Ensembl is currently experiencing issues

The Ensembl REST API is temporarily unavailable. Some gene data (transcript details, protein domains) may be incomplete. Other data sources are unaffected.

You can check Ensembl's status at status.ensembl.org

SPG15

Chr 14AR

Spastic paraplegia 15, autosomal recessive

NCBI Gene: 338378 OMIM: 270700

The SPG15 protein functions in endosomal trafficking and lysosomal biogenesis within neurons. Mutations cause spastic paraplegia 15, an autosomal recessive disorder characterized by progressive spasticity of the lower limbs that typically begins in childhood or adolescence. This form of hereditary spastic paraplegia often includes additional neurological features such as intellectual disability, thin corpus callosum, and retinal abnormalities.

GeneReviews OMIM ResearchSummary from OMIM

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Spastic paraplegia 15, autosomal recessiveMIM #270700

Clinical highlights

Gene–disease validity

Not independently assessedOMIM lists Spastic paraplegia 15, autosomal recessive; no ClinGen or GenCC tier

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)

—

P/LP submissions

—

P/LP missense

—

LOEUF

LOF

Mechanism· G2P

📖

GeneReview available — SPG15