TMEM216 Chromosome 11
Transmembrane protein 216
Upload your DNA to see your personal genotypes for variants in TMEM216.
What This Gene Does
This locus encodes a transmembrane domain-containing protein. Mutations at this locus have been associated with Meckel-Gruber Syndrome Type 2, and Joubert Syndrome 2, also known as Cerebello-oculorenal Syndrome 2. [provided by RefSeq, Aug 2010]
Associated Conditions (9)
Joubert syndrome 2
Meckel syndrome
type 2
Joubert syndrome
Inborn genetic diseases
TMEM216-related disorder
Retinal dystrophy
Abnormality of the nervous system
Retinitis pigmentosa 98
Key Variants
RS111371929
Conflicting classifications of pathogenicity
Joubert syndrome 2, Meckel syndrome, type 2
Health Risk
RS1336106190
Conflicting classifications of pathogenicity
Joubert syndrome, Joubert syndrome 2, Meckel syndrome
Health Risk
RS144613667
Conflicting classifications of pathogenicity
Joubert syndrome 2, Meckel syndrome, type 2
Health Risk
RS1554972407
Conflicting classifications of pathogenicity
Joubert syndrome, Joubert syndrome
Health Risk
RS183785901
Conflicting classifications of pathogenicity
Joubert syndrome 2, Meckel syndrome, type 2
Health Risk
RS188478638
Conflicting classifications of pathogenicity
Meckel syndrome, type 2, Joubert syndrome 2
Health Risk
RS200289511
Conflicting classifications of pathogenicity
Meckel syndrome, type 2, Joubert syndrome
Health Risk
RS557559653
Conflicting classifications of pathogenicity
Joubert syndrome 2, Meckel syndrome, type 2
Health Risk
RS569734777
Conflicting classifications of pathogenicity
Joubert syndrome, Meckel syndrome, type 2
Health Risk
RS57932685
Conflicting classifications of pathogenicity
Joubert syndrome, Joubert syndrome 2, Joubert syndrome
Health Risk
RS59493015
Conflicting classifications of pathogenicity
Joubert syndrome 2, TMEM216-related disorder, Meckel syndrome
Health Risk
RS747600105
Conflicting classifications of pathogenicity
Joubert syndrome, Meckel syndrome, type 2
Health Risk
All Variants (61)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2539896401 | Health Risk | Pathogenic | Joubert syndrome, Joubert syndrome |
| RS2539896690 | Health Risk | Pathogenic | Joubert syndrome, Joubert syndrome |
| RS767384710 | Health Risk | Pathogenic | Joubert syndrome 2, Meckel syndrome, type 2 |
| RS968023665 | Health Risk | Pathogenic | Joubert syndrome, Joubert syndrome |
| RS1304320833 | Health Risk | Pathogenic/Likely pathogenic | Joubert syndrome, Joubert syndrome 2, Joubert syndrome |
| RS1565088283 | Health Risk | Pathogenic/Likely pathogenic | Joubert syndrome, Joubert syndrome 2, Meckel syndrome |
| RS1858737558 | Health Risk | Pathogenic/Likely pathogenic | Joubert syndrome 2, Joubert syndrome 2 |
| RS201108965 | Health Risk | Pathogenic/Likely pathogenic | Joubert syndrome 2, Meckel syndrome, type 2 |
| RS386833830 | Health Risk | Pathogenic/Likely pathogenic | Meckel syndrome, type 2, Meckel syndrome |
| RS386833831 | Health Risk | Pathogenic/Likely pathogenic | Meckel syndrome, type 2, Meckel syndrome |
| RS755459875 | Health Risk | Pathogenic/Likely pathogenic | Joubert syndrome 2, Joubert syndrome, Meckel syndrome |