TMEM218
Chr 11ARtransmembrane protein 218
Also known as: JBTS39
The TMEM218 protein is predicted to localize to cilia and cellular membranes and may be involved in ciliary biogenesis or function. Mutations cause Joubert syndrome 39, a ciliopathy characterized by cerebellar vermis hypoplasia, developmental delay, and brainstem malformation that typically presents in infancy. This condition follows autosomal recessive inheritance.
Primary Disease Associations & Inheritance
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
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
100 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 | 0 | 2 | 58 | 0 | 60 |
Likely Pathogenic | 0 | 2 | 2 | 0 | 4 |
VUS | 2 | 16 | 5 | 0 | 23 |
Likely Benign | 0 | 1 | 0 | 2 | 3 |
Benign | 0 | 0 | 0 | 0 | 0 |
| Total | 2 | 21 | 65 | 2 | 90 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
TMEM218 · 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