TMEM67 Chromosome 8
Transmembrane protein 67
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What This Gene Does
The protein encoded by this gene localizes to the primary cilium and to the plasma membrane. The gene functions in centriole migration to the apical membrane and formation of the primary cilium. Multiple transcript variants encoding different isoforms have been found for this gene. Defects in this gene are a cause of Meckel syndrome type 3 (MKS3) and Joubert syndrome type 6 (JBTS6). [provided by RefSeq, Nov 2008]
Gene Info
Gene Group
MKS complex
Locus Type
gene with protein product
Location
8q22.1
Ensembl
ENSG00000164953
Associated Conditions (48)
Bardet-Biedl syndrome 14
modifier of
Nephronophthisis
Meckel syndrome
type 3
Nephronophthisis 11
Joubert syndrome 6
RHYNS syndrome
Joubert syndrome
Meckel-Gruber syndrome
COACH syndrome 1
TMEM67-related disorder
6 conditions
Familial pancreatic carcinoma
Thyroid cancer
nonmedullary
1
Kidney failure
Inborn genetic diseases
Kidney disorder
+28 more conditions
Key Variants
RS111619594
Conflicting classifications of pathogenicity
Bardet-Biedl syndrome 14, modifier of, Nephronophthisis
Health Risk
RS111991507
Conflicting classifications of pathogenicity
Meckel-Gruber syndrome, Joubert syndrome, Kidney failure
Health Risk
RS112261772
Conflicting classifications of pathogenicity
Meckel-Gruber syndrome, Joubert syndrome, Meckel-Gruber syndrome
Health Risk
RS114655330
Conflicting classifications of pathogenicity
Meckel syndrome, type 3, Joubert syndrome 6
Health Risk
RS115563233
Conflicting classifications of pathogenicity
Nephronophthisis, Joubert syndrome, Meckel-Gruber syndrome
Health Risk
RS115640152
Conflicting classifications of pathogenicity
Joubert syndrome, Meckel-Gruber syndrome, Nephronophthisis 11
Health Risk
RS115660279
Conflicting classifications of pathogenicity
Joubert syndrome, Meckel-Gruber syndrome, Meckel syndrome
Health Risk
RS115967793
Conflicting classifications of pathogenicity
Meckel-Gruber syndrome, Joubert syndrome, Nephronophthisis 11
Health Risk
RS116445698
Conflicting classifications of pathogenicity
Joubert syndrome 6, Meckel syndrome, type 3
Health Risk
RS1281778614
Conflicting classifications of pathogenicity
Inborn genetic diseases, Joubert syndrome 6, Joubert syndrome
Health Risk
RS1392985639
Conflicting classifications of pathogenicity
Joubert syndrome, Meckel-Gruber syndrome, 6 conditions
Health Risk
RS140191346
Conflicting classifications of pathogenicity
Joubert syndrome 1, Joubert syndrome, Meckel-Gruber syndrome
Health Risk
All Variants (237)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS775256658 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 6, Meckel-Gruber syndrome, Joubert syndrome |
| RS775266788 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome, Meckel-Gruber syndrome, Joubert syndrome |
| RS781383498 | Health Risk | Conflicting classifications of pathogenicity | Meckel-Gruber syndrome, Joubert syndrome, Joubert syndrome 6 |
| RS797046045 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 6, Joubert syndrome, Meckel-Gruber syndrome |
| RS863225224 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 6, Meckel-Gruber syndrome, Joubert syndrome |
| RS863225233 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 6, 6 conditions, Joubert syndrome 6 |
| RS863225234 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 6, Joubert syndrome 6 |
| RS886038738 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 6, Meckel syndrome, type 3 |
| RS900677485 | Health Risk | Conflicting classifications of pathogenicity | Meckel syndrome, type 3, Nephronophthisis 11 |
| RS970248353 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome, Meckel-Gruber syndrome, 6 conditions |
| RS1064795843 | Health Risk | Likely pathogenic | — |
| RS1211156516 | Health Risk | Likely pathogenic | Meckel-Gruber syndrome, Joubert syndrome, Meckel-Gruber syndrome |
| RS1228731181 | Health Risk | Likely pathogenic | TMEM67-related disorder, TMEM67-related disorder |
| RS1293481687 | Health Risk | Likely pathogenic | Joubert syndrome, Meckel-Gruber syndrome, 6 conditions |
| RS1390541519 | Health Risk | Likely pathogenic | Joubert syndrome and related disorders, Joubert syndrome and related disorders |
| RS139721499 | Health Risk | Likely pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Joubert syndrome |
| RS1554558365 | Health Risk | Likely pathogenic | Generalized hypotonia, Cerebellar vermis hypoplasia, Iris coloboma |
| RS1563458773 | Health Risk | Likely pathogenic | Meckel-Gruber syndrome, Joubert syndrome, 6 conditions |
| RS1563673490 | Health Risk | Likely pathogenic | Meckel syndrome, type 3, Meckel-Gruber syndrome |
| RS1586336362 | Health Risk | Likely pathogenic | Joubert syndrome 6, Joubert syndrome 6 |
| RS1812685381 | Health Risk | Likely pathogenic | Joubert syndrome 6, Joubert syndrome 6 |
| RS1813039419 | Health Risk | Likely pathogenic | Nephronophthisis 11, Nephronophthisis 11 |
| RS1813878286 | Health Risk | Likely pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Joubert syndrome |
| RS1814047987 | Health Risk | Likely pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Joubert syndrome |
| RS1814190165 | Health Risk | Likely pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Joubert syndrome |
| RS199821258 | Health Risk | Likely pathogenic | Joubert syndrome 6, Meckel syndrome, type 3 |
| RS2130576231 | Health Risk | Likely pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Joubert syndrome |
| RS2130727900 | Health Risk | Likely pathogenic | Joubert syndrome 6, Joubert syndrome 6 |
| RS2130735756 | Health Risk | Likely pathogenic | Spastic ataxia, Spastic ataxia |
| RS2536753612 | Health Risk | Likely pathogenic | Meckel-Gruber syndrome, Joubert syndrome, Joubert syndrome and related disorders |
| RS2536784373 | Health Risk | Likely pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Joubert syndrome |
| RS2536790447 | Health Risk | Likely pathogenic | Meckel-Gruber syndrome, Joubert syndrome, Meckel-Gruber syndrome |
| RS2536790773 | Health Risk | Likely pathogenic | Meckel-Gruber syndrome, Joubert syndrome, Meckel-Gruber syndrome |
| RS2536841694 | Health Risk | Likely pathogenic | Meckel-Gruber syndrome, Joubert syndrome, Meckel-Gruber syndrome |
| RS2536841703 | Health Risk | Likely pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Joubert syndrome |
| RS2536888058 | Health Risk | Likely pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Joubert syndrome |
| RS2536896446 | Health Risk | Likely pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Joubert syndrome |
| RS2536903110 | Health Risk | Likely pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Joubert syndrome |
| RS2536904460 | Health Risk | Likely pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Joubert syndrome |
| RS2536929338 | Health Risk | Likely pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Joubert syndrome |
| RS2536968043 | Health Risk | Likely pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Joubert syndrome |
| RS386834181 | Health Risk | Likely pathogenic | Meckel syndrome, type 3, Meckel syndrome |
| RS386834186 | Health Risk | Likely pathogenic | Meckel syndrome, type 3, Meckel syndrome |
| RS386834188 | Health Risk | Likely pathogenic | Meckel syndrome, type 3, Meckel syndrome |
| RS386834195 | Health Risk | Likely pathogenic | Meckel syndrome, type 3, Meckel syndrome |
| RS386834197 | Health Risk | Likely pathogenic | Meckel syndrome, type 3, Meckel syndrome |
| RS386834198 | Health Risk | Likely pathogenic | Meckel syndrome, type 3, Meckel syndrome |
| RS386834199 | Health Risk | Likely pathogenic | Meckel syndrome, type 3, Meckel syndrome |
| RS386834206 | Health Risk | Likely pathogenic | Meckel syndrome, type 3, Meckel syndrome |
| RS386834208 | Health Risk | Likely pathogenic | Meckel syndrome, type 3, Meckel syndrome |