Features include always present findings: Poor head control, Strabismus, Ataxia, and Generalized hypotonia and others; and sometimes findings: Microcephaly, Occipital myelomeningocele, Liver scarring (fibrosis) (hepatic fibrosis), and Renal cyst and others. 53 total HPO annotations.

INPP5E encodes inositol polyphosphate-5-phosphatase E (644 aa). Phosphatidylinositol (PtdIns) phosphatase that specifically hydrolyzes the 5-phosphate of phosphatidylinositol-3,4,5-trisphosphate (PtdIns(3,4,5)P3), phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2) and phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2). Highest expression in Testis (29.9 TPM) and Brain Cerebellum (27.5 TPM).

Joubert syndrome 1 is caused by mutations in the INPP5E gene on chromosome 9.

The INPP5E protein participates in INPP5E translocates to the primary cilium, PDE6D dissociates from ARL13B:INPP5E, and ARL13B-mediated ciliary trafficking of INPP5E pathways.

INPP5E is classified as a druggable target (Druggable Genome and Enzyme categories) with score 0.0.

Genetic testing for INPP5E is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 15 always present features.

1 clinical trial registered, 1 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

23 publications have been identified in PubMed for Joubert syndrome 1. Research spans Case Report / Case Series (48%), Basic Science / Preclinical (43%), and Epidemiology / Natural History (9%).