INPP5E
Chr 9ARinositol polyphosphate-5-phosphatase E
Also known as: CORS1, CPD4, JBTS1, MORMS, PPI5PIV, pharbin
The encoded phosphatidylinositol phosphatase hydrolyzes specific phosphoinositides and plays an essential role in primary cilium function by controlling ciliary growth and PI3K signaling. Mutations cause Joubert syndrome with characteristic midbrain-hindbrain malformation and associated ciliopathies including retinal dystrophy, nephronophthisis, liver fibrosis, and polydactyly, as well as a syndrome involving intellectual disability, truncal obesity, retinal dystrophy, and micropenis. Inheritance is autosomal recessive.
Definitive — sufficient evidence for diagnostic panels
2 total gene-disease associations curated
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
INPP5E · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
External Resources
Links to major genomics databases and tools