RAB18
Chr 10ARRAB18, member RAS oncogene family
Also known as: RAB18LI1, WARBM3
RAB18 encodes a small GTPase that regulates intracellular membrane trafficking, maintains endoplasmic reticulum structure, and is required for endoplasmic reticulum-lipid droplet contacts. Mutations cause Warburg micro syndrome type 3, an autosomal recessive disorder affecting eye and brain development. The gene is highly constrained against loss-of-function variants (pLI 0.91, LOEUF 0.39), consistent with its essential role in neurological development.
Moderate evidence — consider for supplementary testing
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
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. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
232 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 2 | 3 | 13 | 0 | 18 |
Likely Pathogenic | 2 | 1 | 2 | 0 | 5 |
VUS | 3 | 34 | 74 | 1 | 112 |
Likely Benign | 0 | 3 | 23 | 13 | 39 |
Benign | 0 | 1 | 37 | 0 | 38 |
Conflicting | — | 4 | |||
| Total | 7 | 42 | 149 | 14 | 216 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
RAB18 · 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