CDIPT
Chr 16CDP-diacylglycerol--inositol 3-phosphatidyltransferase
Also known as: PIS, PIS1
The enzyme catalyzes the biosynthesis of phosphatidylinositol and performs phosphatidylinositol:inositol exchange reactions on the endoplasmic reticulum and Golgi apparatus. Mutations cause autosomal recessive congenital cataracts, facial dysmorphism, and neuropathy (CCFDN), a syndrome presenting in infancy with cataracts, distinctive facial features, progressive peripheral neuropathy, and developmental delays. The gene shows moderate tolerance to loss-of-function variants based on population genetics data.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
This gene has evidence for multiple mechanisms of pathogenicity (dominant-negative and gain-of-function). Both the Badonyi & Marsh prediction and the broader genomic evidence point to dominant-negative as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
CDIPT · 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
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools