TMEM218 Chromosome 11
Transmembrane protein 218
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What This Gene Does
Predicted to be located in cilium and membrane. Implicated in Joubert syndrome. [provided by Alliance of Genome Resources, Jul 2025]
Associated Conditions (4)
Joubert syndrome 39
Joubert syndrome
Meckel syndrome
type 4
Key Variants
RS1248550491
Likely pathogenic
Joubert syndrome 39, Joubert syndrome 39
Health Risk
RS141744337
Likely pathogenic
Joubert syndrome, Meckel syndrome, type 4
Health Risk
RS1950967763
Pathogenic
Joubert syndrome, Joubert syndrome 39, Joubert syndrome
Health Risk
RS758805438
Pathogenic
Meckel syndrome, type 4, Meckel syndrome
Health Risk
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1248550491 | Health Risk | Likely pathogenic | Joubert syndrome 39, Joubert syndrome 39 |
| RS141744337 | Health Risk | Likely pathogenic | Joubert syndrome, Meckel syndrome, type 4 |
| RS1950967763 | Health Risk | Pathogenic | Joubert syndrome, Joubert syndrome 39, Joubert syndrome |
| RS758805438 | Health Risk | Pathogenic | Meckel syndrome, type 4, Meckel syndrome |