TBC1D32 Chromosome 6
TBC1 domain family member 32
Upload your DNA to see your personal genotypes for variants in TBC1D32.
What This Gene Does
This gene encodes a TBC-domain containing protein. Studies of a similar protein in mouse and zebrafish suggest that the encoded protein is involved in sonic hedgehog signaling, and that it interacts with and stabilizes cell cycle-related kinase. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
Gene Info
Gene Group
Armadillo like helical domain containing
Locus Type
gene with protein product
Location
6q22.31
Ensembl
ENSG00000146350
Associated Conditions (7)
TBC1D32-related disorder
Inborn genetic diseases
Orofaciodigital syndrome IX
Alsahan-Harris syndrome
Joubert syndrome 36
Hypopituitarism
Ciliopathy
Key Variants
RS181574808
Conflicting classifications of pathogenicity
TBC1D32-related disorder, Inborn genetic diseases, TBC1D32-related disorder
Health Risk
RS199671235
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS375307834
Conflicting classifications of pathogenicity
Orofaciodigital syndrome IX, Orofaciodigital syndrome IX
Health Risk
RS1434804006
Likely pathogenic
TBC1D32-related disorder, TBC1D32-related disorder
Health Risk
RS369794331
Likely pathogenic
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS587777505
Likely pathogenic
Alsahan-Harris syndrome, Orofaciodigital syndrome IX, Alsahan-Harris syndrome
Health Risk
RS748798523
Likely pathogenic
Joubert syndrome 36, Joubert syndrome 36
Health Risk
RS1408886972
Pathogenic
Health Risk
RS2128502824
Pathogenic
Health Risk
RS759071569
Pathogenic
Health Risk
RS773171737
Pathogenic
Health Risk
RS200603439
Pathogenic/Likely pathogenic
Hypopituitarism, Ciliopathy, Orofaciodigital syndrome IX
Health Risk
All Variants (12)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS181574808 | Health Risk | Conflicting classifications of pathogenicity | TBC1D32-related disorder, Inborn genetic diseases, TBC1D32-related disorder |
| RS199671235 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS375307834 | Health Risk | Conflicting classifications of pathogenicity | Orofaciodigital syndrome IX, Orofaciodigital syndrome IX |
| RS1434804006 | Health Risk | Likely pathogenic | TBC1D32-related disorder, TBC1D32-related disorder |
| RS369794331 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS587777505 | Health Risk | Likely pathogenic | Alsahan-Harris syndrome, Orofaciodigital syndrome IX, Alsahan-Harris syndrome |
| RS748798523 | Health Risk | Likely pathogenic | Joubert syndrome 36, Joubert syndrome 36 |
| RS1408886972 | Health Risk | Pathogenic | — |
| RS2128502824 | Health Risk | Pathogenic | — |
| RS759071569 | Health Risk | Pathogenic | — |
| RS773171737 | Health Risk | Pathogenic | — |
| RS200603439 | Health Risk | Pathogenic/Likely pathogenic | Hypopituitarism, Ciliopathy, Orofaciodigital syndrome IX |