TCTN3 Chromosome 10
Tectonic family member 3
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What This Gene Does
This gene encodes a member of the tectonic gene family which functions in Hedgehog signal transduction and development of the neural tube. Mutations in this gene have been associated with Orofaciodigital Syndrome IV and Joubert Syndrom 18. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2012]
Gene Info
Gene Group
Tectonic proteins
Locus Type
gene with protein product
Location
10q24.1
Ensembl
ENSG00000119977
Associated Conditions (7)
Orofacial-digital syndrome IV
Joubert syndrome 18
Inborn genetic diseases
TCTN3-related disorder
See cases
Joubert syndrome and related disorders
Ciliopathy
Key Variants
RS181107730
Conflicting classifications of pathogenicity
Orofacial-digital syndrome IV, Joubert syndrome 18, Inborn genetic diseases
Health Risk
RS200042949
Conflicting classifications of pathogenicity
Orofacial-digital syndrome IV, Joubert syndrome 18, TCTN3-related disorder
Health Risk
RS201367852
Conflicting classifications of pathogenicity
Orofacial-digital syndrome IV, Joubert syndrome 18, Orofacial-digital syndrome IV
Health Risk
RS546805063
Conflicting classifications of pathogenicity
Joubert syndrome 18, Orofacial-digital syndrome IV, Joubert syndrome 18
Health Risk
RS557962090
Conflicting classifications of pathogenicity
Orofacial-digital syndrome IV, Joubert syndrome 18, Inborn genetic diseases
Health Risk
RS749447795
Conflicting classifications of pathogenicity
Orofacial-digital syndrome IV, Joubert syndrome 18, Orofacial-digital syndrome IV
Health Risk
RS758733887
Conflicting classifications of pathogenicity
Orofacial-digital syndrome IV, Joubert syndrome 18, See cases
Health Risk
RS765375312
Conflicting classifications of pathogenicity
Orofacial-digital syndrome IV, Joubert syndrome 18, Inborn genetic diseases
Health Risk
RS774592467
Conflicting classifications of pathogenicity
Orofacial-digital syndrome IV, Joubert syndrome 18, Orofacial-digital syndrome IV
Health Risk
RS1174698466
Likely pathogenic
Joubert syndrome 18, Orofacial-digital syndrome IV, Joubert syndrome 18
Health Risk
RS1221992171
Likely pathogenic
Orofacial-digital syndrome IV, Joubert syndrome 18, Orofacial-digital syndrome IV
Health Risk
RS1224169161
Likely pathogenic
Orofacial-digital syndrome IV, Joubert syndrome 18, Joubert syndrome and related disorders
Health Risk
All Variants (54)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS755903123 | Health Risk | Pathogenic/Likely pathogenic | Orofacial-digital syndrome IV, Joubert syndrome 18, Joubert syndrome and related disorders |
| RS763132585 | Health Risk | Pathogenic/Likely pathogenic | Orofacial-digital syndrome IV, Joubert syndrome 18, Ciliopathy |
| RS764091969 | Health Risk | Pathogenic/Likely pathogenic | Orofacial-digital syndrome IV, Joubert syndrome 18, Orofacial-digital syndrome IV |
| RS779729881 | Health Risk | Pathogenic/Likely pathogenic | Orofacial-digital syndrome IV, Joubert syndrome 18, Orofacial-digital syndrome IV |