TMEM237 Chromosome 2
Transmembrane protein 237
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What This Gene Does
The protein encoded by this gene is a tetraspanin protein that is thought to be involved in WNT signaling. Defects in this gene are a cause of Joubert syndrome-14. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]
Associated Conditions (7)
Joubert syndrome 14
Inborn genetic diseases
TMEM237-related disorder
Joubert syndrome 1
Joubert syndrome and related disorders
Joubert syndrome
Meckel-Gruber syndrome
Key Variants
RS1269827788
Conflicting classifications of pathogenicity
Joubert syndrome 14, Inborn genetic diseases, Joubert syndrome 14
Health Risk
RS1378726802
Conflicting classifications of pathogenicity
Joubert syndrome 14, Joubert syndrome 14
Health Risk
RS137925244
Conflicting classifications of pathogenicity
Joubert syndrome 14, Joubert syndrome 14
Health Risk
RS138509553
Conflicting classifications of pathogenicity
Joubert syndrome 14, TMEM237-related disorder, Joubert syndrome 14
Health Risk
RS142403941
Conflicting classifications of pathogenicity
Joubert syndrome 14, Joubert syndrome 14
Health Risk
RS149240122
Conflicting classifications of pathogenicity
Joubert syndrome 14, Joubert syndrome 14
Health Risk
RS151163650
Conflicting classifications of pathogenicity
Joubert syndrome 14, TMEM237-related disorder, Inborn genetic diseases
Health Risk
RS191125006
Conflicting classifications of pathogenicity
Joubert syndrome 14, Joubert syndrome 14
Health Risk
RS199500256
Conflicting classifications of pathogenicity
Joubert syndrome 14, Joubert syndrome 14
Health Risk
RS199624987
Conflicting classifications of pathogenicity
Joubert syndrome 14, TMEM237-related disorder, Inborn genetic diseases
Health Risk
RS200714434
Conflicting classifications of pathogenicity
Joubert syndrome 14, Joubert syndrome 14
Health Risk
RS2105899169
Conflicting classifications of pathogenicity
Joubert syndrome 14, Joubert syndrome 14
Health Risk
All Variants (55)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS730882231 | Health Risk | Pathogenic/Likely pathogenic | Meckel-Gruber syndrome, Joubert syndrome 14, Meckel-Gruber syndrome |
| RS776665329 | Health Risk | Pathogenic/Likely pathogenic | Joubert syndrome 14, Joubert syndrome and related disorders, Joubert syndrome 14 |
| RS793888505 | Health Risk | Pathogenic/Likely pathogenic | Joubert syndrome 14, Joubert syndrome 14, Joubert syndrome 14 |
| RS80034299 | Health Risk | Pathogenic/Likely pathogenic | Joubert syndrome 14, Joubert syndrome and related disorders, Joubert syndrome 14 |
| RS902145121 | Health Risk | Pathogenic/Likely pathogenic | Joubert syndrome 14, Joubert syndrome 14 |