TCTN1 Chromosome 12
Tectonic family member 1
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What This Gene Does
This gene encodes a member of a family of secreted and transmembrane proteins. The orthologous gene in mouse functions downstream of smoothened and rab23 to modulate hedgehog signal transduction. This protein is a component of the tectonic-like complex, which forms a barrier between the ciliary axoneme and the basal body. A mutation in this gene was found in a family with Joubert syndrome-13. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
Gene Info
Gene Group
"Tectonic proteins|MKS complex"
Locus Type
gene with protein product
Location
12q24.11
Ensembl
ENSG00000204852
Associated Conditions (12)
Joubert syndrome 13
Meckel-Gruber syndrome
Joubert syndrome
Inborn genetic diseases
TCTN1-related disorder
Developmental disorder
Joubert syndrome and related disorders
Malignant tumor of urinary bladder
Clear cell carcinoma of kidney
Global developmental delay
Typical Joubert syndrome MRI findings
Lung cancer
Key Variants
RS118057448
Conflicting classifications of pathogenicity
Joubert syndrome 13, Meckel-Gruber syndrome, Joubert syndrome
Health Risk
RS1415245710
Conflicting classifications of pathogenicity
Meckel-Gruber syndrome, Joubert syndrome, Inborn genetic diseases
Health Risk
RS145478892
Conflicting classifications of pathogenicity
Joubert syndrome 13, Joubert syndrome, Meckel-Gruber syndrome
Health Risk
RS145970332
Conflicting classifications of pathogenicity
Joubert syndrome 13, Meckel-Gruber syndrome, Joubert syndrome
Health Risk
RS188817098
Conflicting classifications of pathogenicity
Joubert syndrome, Meckel-Gruber syndrome, Joubert syndrome 13
Health Risk
RS199529768
Conflicting classifications of pathogenicity
Joubert syndrome 13, Meckel-Gruber syndrome, Joubert syndrome
Health Risk
RS201894544
Conflicting classifications of pathogenicity
Joubert syndrome, Meckel-Gruber syndrome, Joubert syndrome 13
Health Risk
RS368907353
Conflicting classifications of pathogenicity
Joubert syndrome, Meckel-Gruber syndrome, TCTN1-related disorder
Health Risk
RS370336923
Conflicting classifications of pathogenicity
Joubert syndrome, Meckel-Gruber syndrome, Joubert syndrome
Health Risk
RS371066430
Conflicting classifications of pathogenicity
Joubert syndrome 13, Meckel-Gruber syndrome, Joubert syndrome
Health Risk
RS371899538
Conflicting classifications of pathogenicity
Meckel-Gruber syndrome, Joubert syndrome, Joubert syndrome 13
Health Risk
RS754017886
Conflicting classifications of pathogenicity
Joubert syndrome, Meckel-Gruber syndrome, Joubert syndrome
Health Risk
All Variants (60)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS367543065 | Health Risk | Pathogenic | Joubert syndrome 13, Joubert syndrome 13 |
| RS374065616 | Health Risk | Pathogenic | Meckel-Gruber syndrome, Joubert syndrome, Meckel-Gruber syndrome |
| RS730882221 | Health Risk | Pathogenic | Global developmental delay, Typical Joubert syndrome MRI findings, Joubert syndrome 13 |
| RS748215804 | Health Risk | Pathogenic | Meckel-Gruber syndrome, Joubert syndrome, Joubert syndrome 13 |
| RS751962801 | Health Risk | Pathogenic | Joubert syndrome 13, Joubert syndrome, Meckel-Gruber syndrome |
| RS766816100 | Health Risk | Pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Joubert syndrome |
| RS797046039 | Health Risk | Pathogenic | Joubert syndrome 13, Joubert syndrome 13 |
| RS1398514249 | Health Risk | Pathogenic/Likely pathogenic | Meckel-Gruber syndrome, Joubert syndrome, Joubert syndrome 13 |
| RS757348545 | Health Risk | Pathogenic/Likely pathogenic | Meckel-Gruber syndrome, Joubert syndrome, TCTN1-related disorder |
| RS886039436 | Health Risk | Pathogenic/Likely pathogenic | Joubert syndrome 13, Lung cancer, Joubert syndrome 13 |