TMEM107 Chromosome 17
Transmembrane protein 107
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What This Gene Does
This gene encodes a transmembrane protein and component of the primary cilia transition zone. The encoded protein regulates ciliogenesis and ciliary protein composition. Human fibroblasts expressing a mutant allele of this gene exhibit reduced numbers of cilia, altered cilia length, and impaired sonic hedgehog signaling. In human patients, different mutations in this gene cause different ciliopathies, including Meckel-Gruber syndrome and orofaciodigital syndrome. [provided by RefSeq, May 2017]
Associated Conditions (6)
Inborn genetic diseases
Meckel syndrome 13
Orofaciodigital syndrome 16
Leukoencephalopathy with calcifications and cysts
Orofaciodigital syndrome
Joubert syndrome 29
Key Variants
RS766838320
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2507717304
Likely pathogenic
Health Risk
RS1131692180
Pathogenic
Meckel syndrome 13, Meckel syndrome 13
Health Risk
RS1302075903
Pathogenic
Health Risk
RS1555525895
Pathogenic
Meckel syndrome 13, Meckel syndrome 13
Health Risk
RS1555526172
Pathogenic
Orofaciodigital syndrome 16, Leukoencephalopathy with calcifications and cysts, Orofaciodigital syndrome 16
Health Risk
RS2507724877
Pathogenic
Health Risk
RS752171066
Pathogenic
Orofaciodigital syndrome 16, Orofaciodigital syndrome, Joubert syndrome 29
Health Risk
RS770768585
Pathogenic
Health Risk
All Variants (9)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS766838320 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS2507717304 | Health Risk | Likely pathogenic | — |
| RS1131692180 | Health Risk | Pathogenic | Meckel syndrome 13, Meckel syndrome 13 |
| RS1302075903 | Health Risk | Pathogenic | — |
| RS1555525895 | Health Risk | Pathogenic | Meckel syndrome 13, Meckel syndrome 13 |
| RS1555526172 | Health Risk | Pathogenic | Orofaciodigital syndrome 16, Leukoencephalopathy with calcifications and cysts, Orofaciodigital syndrome 16 |
| RS2507724877 | Health Risk | Pathogenic | — |
| RS752171066 | Health Risk | Pathogenic | Orofaciodigital syndrome 16, Orofaciodigital syndrome, Joubert syndrome 29 |
| RS770768585 | Health Risk | Pathogenic | — |