TMEM216
Chr 11ARtransmembrane protein 216
The encoded transmembrane protein is essential for primary ciliogenesis and embryonic development, facilitating Hedgehog signaling pathway activation and ensuring proper photoreceptor outer segment development. Autosomal recessive mutations cause Joubert syndrome 2, Meckel syndrome 2, and retinitis pigmentosa 98, representing a spectrum of ciliopathy disorders affecting the brain, kidneys, and retina. These conditions typically present in infancy to early childhood with characteristic cerebellar malformation (molar tooth sign), cystic kidney disease, and progressive vision loss.
Definitive — sufficient evidence for diagnostic panels
Some data sources returned errors (1)
ncbi: Error: NCBI fetch failed: 429 https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esearch.fcgi
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
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
TMEM216 · 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