TTC8 Chromosome 14
Tetratricopeptide repeat domain 8
Upload your DNA to see your personal genotypes for variants in TTC8.
What This Gene Does
This gene encodes a protein that has been directly linked to Bardet-Biedl syndrome. The primary features of this syndrome include retinal dystrophy, obesity, polydactyly, renal abnormalities and learning disabilities. Experimentation in non-human eukaryotes suggests that this gene is expressed in ciliated cells and that it is involved in the formation of cilia. A mutation in this gene has also been implicated in nonsyndromic retinitis pigmentosa. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
Gene Info
Gene Group
"Tetratricopeptide repeat domain containing|BBSome"
Locus Type
gene with protein product
Location
14q31.3
Ensembl
ENSG00000165533
Associated Conditions (16)
Retinitis pigmentosa
Bardet-Biedl syndrome
Bardet-Biedl syndrome 8
TTC8-related disorder
Uterine corpus endometrial carcinoma
Inborn genetic diseases
Macular dystrophy
Retinitis pigmentosa 51
Retinal dystrophy
Gastric cancer
Malignant tumor of esophagus
Hepatocellular carcinoma
Postaxial foot polydactyly
Moderate intellectual disability
Truncal obesity
Ovarian serous cystadenocarcinoma
Key Variants
RS114064158
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Bardet-Biedl syndrome, Bardet-Biedl syndrome 8
Health Risk
RS114557412
Conflicting classifications of pathogenicity
Bardet-Biedl syndrome, Bardet-Biedl syndrome 8, Retinitis pigmentosa
Health Risk
RS116740320
Conflicting classifications of pathogenicity
Bardet-Biedl syndrome 8, Retinitis pigmentosa, Bardet-Biedl syndrome 8
Health Risk
RS1244721977
Conflicting classifications of pathogenicity
Bardet-Biedl syndrome, Bardet-Biedl syndrome 8, Inborn genetic diseases
Health Risk
RS137853922
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Bardet-Biedl syndrome, Bardet-Biedl syndrome 8
Health Risk
RS139773124
Conflicting classifications of pathogenicity
Bardet-Biedl syndrome, TTC8-related disorder, Bardet-Biedl syndrome
Health Risk
RS140698625
Conflicting classifications of pathogenicity
Bardet-Biedl syndrome, Bardet-Biedl syndrome 8, Macular dystrophy
Health Risk
RS141304350
Conflicting classifications of pathogenicity
Bardet-Biedl syndrome, Retinitis pigmentosa, Bardet-Biedl syndrome 8
Health Risk
RS142073418
Conflicting classifications of pathogenicity
Bardet-Biedl syndrome, Retinitis pigmentosa, Bardet-Biedl syndrome 8
Health Risk
RS142938748
Conflicting classifications of pathogenicity
Bardet-Biedl syndrome 8, Bardet-Biedl syndrome, Retinitis pigmentosa
Health Risk
RS147325843
Conflicting classifications of pathogenicity
Bardet-Biedl syndrome 8, Retinitis pigmentosa, Bardet-Biedl syndrome 8
Health Risk
RS150880478
Conflicting classifications of pathogenicity
Bardet-Biedl syndrome, Retinitis pigmentosa, Bardet-Biedl syndrome 8
Health Risk
All Variants (87)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2546237444 | Health Risk | Likely pathogenic | Retinitis pigmentosa 51, Retinitis pigmentosa 51 |
| RS587777809 | Health Risk | Likely pathogenic | Retinitis pigmentosa 51, Retinal dystrophy, Retinitis pigmentosa 51 |
| RS750521601 | Health Risk | Likely pathogenic | — |
| RS757429317 | Health Risk | Likely pathogenic | Retinitis pigmentosa 51, Retinitis pigmentosa 51 |
| RS771218088 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome, Retinitis pigmentosa 51, Bardet-Biedl syndrome |
| RS779691797 | Health Risk | Likely pathogenic | Retinitis pigmentosa 51, Retinitis pigmentosa 51 |
| RS993279874 | Health Risk | Likely pathogenic | Retinitis pigmentosa 51, Retinitis pigmentosa 51 |
| RS1201637776 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS1347407994 | Health Risk | Pathogenic | Bardet-Biedl syndrome 8, Bardet-Biedl syndrome 8 |
| RS2094691095 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS2094937970 | Health Risk | Pathogenic | Bardet-Biedl syndrome 8, Bardet-Biedl syndrome 8 |
| RS2140976096 | Health Risk | Pathogenic | Bardet-Biedl syndrome, TTC8-related disorder, Bardet-Biedl syndrome |
| RS2140999501 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS2141033426 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS2141038703 | Health Risk | Pathogenic | Retinitis pigmentosa 51, Retinitis pigmentosa 51 |
| RS2546126719 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS2546169588 | Health Risk | Pathogenic | Bardet-Biedl syndrome 8, Bardet-Biedl syndrome 8 |
| RS2546194616 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS2546231494 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS2546237065 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS587777806 | Health Risk | Pathogenic | Bardet-Biedl syndrome 8, Bardet-Biedl syndrome 8 |
| RS587777807 | Health Risk | Pathogenic | Bardet-Biedl syndrome 8, Bardet-Biedl syndrome, Bardet-Biedl syndrome 8 |
| RS587777808 | Health Risk | Pathogenic | Bardet-Biedl syndrome 8, Bardet-Biedl syndrome 8 |
| RS876661403 | Health Risk | Pathogenic | Retinitis pigmentosa 51, Retinitis pigmentosa 51 |
| RS928368462 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Retinitis pigmentosa 51, Bardet-Biedl syndrome |
| RS119103286 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome 8, Bardet-Biedl syndrome, Postaxial foot polydactyly |
| RS1271312946 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome, Retinitis pigmentosa 51, Bardet-Biedl syndrome 8 |
| RS1273244823 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome 8, Bardet-Biedl syndrome |
| RS139234943 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa 51, Bardet-Biedl syndrome 8, Bardet-Biedl syndrome |
| RS1431207606 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa 51, Bardet-Biedl syndrome, TTC8-related disorder |
| RS2094690718 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome 8, Bardet-Biedl syndrome, Bardet-Biedl syndrome 8 |
| RS2094860666 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa 51, Bardet-Biedl syndrome, Retinitis pigmentosa 51 |
| RS2546175066 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa 51, Bardet-Biedl syndrome, Retinitis pigmentosa 51 |
| RS2546212753 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome 8, Bardet-Biedl syndrome |
| RS2546230995 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome, Retinitis pigmentosa 51, Bardet-Biedl syndrome |
| RS376035653 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome 8, Retinitis pigmentosa 51 |
| RS948160026 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome, Retinitis pigmentosa 51, Retinal dystrophy |