BBS10 Chromosome 12
Bardet-Biedl syndrome 10
Upload your DNA to see your personal genotypes for variants in BBS10.
What This Gene Does
This gene is a member of the Bardet-Biedl syndrome (BBS) gene family. Bardet-Biedl syndrome is an autosomal recessive disorder characterized by progressive retinal degeneration, obesity, polydactyly, renal malformation and cognitive disability. The proteins encoded by BBS gene family members are structurally diverse and the similar phenotypes exhibited by mutations in BBS gene family members is likely due to their shared roles in cilia formation and function. Many BBS proteins localize to the basal bodies, ciliary axonemes, and pericentriolar regions of cells. BBS proteins may also be involved in intracellular trafficking via microtubule-related transport. The protein encoded by this gene is likely not a ciliary protein but rather has distant sequence homology to type II chaperonins. As a molecular chaperone, this protein may affect the folding or stability of other ciliary or basal body proteins. Inhibition of this protein's expression impairs ciliogenesis in preadipocytes. Mutations in this gene cause Bardet-Biedl syndrome type 10. [provided by RefSeq, Jan 2010]
Gene Info
Gene Group
Chaperonins
Locus Type
gene with protein product
Location
12q21.2
Ensembl
ENSG00000179941
Associated Conditions (14)
Bardet-Biedl syndrome
BBS10-related disorder
Inborn genetic diseases
Retinal dystrophy
Bardet-Biedl syndrome 10
Bardet-Biedl syndrome 1
BBS10-related ciliopathy
Early onset severe obesity
Bardet-biedl syndrome 6/10
digenic
Retinitis pigmentosa
Asphyxiating thoracic dystrophy 3
Bardet-biedl syndrome 1/10
6 conditions
Key Variants
RS1051916652
Conflicting classifications of pathogenicity
Bardet-Biedl syndrome, BBS10-related disorder, Inborn genetic diseases
Health Risk
RS1176176320
Conflicting classifications of pathogenicity
Retinal dystrophy, Bardet-Biedl syndrome, Retinal dystrophy
Health Risk
RS1242888821
Conflicting classifications of pathogenicity
Bardet-Biedl syndrome, Inborn genetic diseases, Bardet-Biedl syndrome
Health Risk
RS1318745309
Conflicting classifications of pathogenicity
Bardet-Biedl syndrome 10, Bardet-Biedl syndrome, Bardet-Biedl syndrome 10
Health Risk
RS137852836
Conflicting classifications of pathogenicity
Bardet-Biedl syndrome 10, Bardet-Biedl syndrome 10
Health Risk
RS137852838
Conflicting classifications of pathogenicity
Bardet-Biedl syndrome 10, Bardet-Biedl syndrome 10
Health Risk
RS138702315
Conflicting classifications of pathogenicity
Bardet-Biedl syndrome, Bardet-Biedl syndrome 10, Bardet-Biedl syndrome
Health Risk
RS138961848
Conflicting classifications of pathogenicity
Bardet-Biedl syndrome, Bardet-Biedl syndrome 10, BBS10-related disorder
Health Risk
RS139658279
Conflicting classifications of pathogenicity
Bardet-Biedl syndrome 1, Bardet-Biedl syndrome 10, Bardet-Biedl syndrome
Health Risk
RS140585012
Conflicting classifications of pathogenicity
Bardet-Biedl syndrome, Bardet-Biedl syndrome 10, BBS10-related disorder
Health Risk
RS141521925
Conflicting classifications of pathogenicity
Bardet-Biedl syndrome, Bardet-Biedl syndrome 10, Bardet-Biedl syndrome
Health Risk
RS141647931
Conflicting classifications of pathogenicity
Bardet-Biedl syndrome 10, Bardet-Biedl syndrome, BBS10-related disorder
Health Risk
All Variants (254)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS781421232 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS786204671 | Health Risk | Pathogenic | Bardet-Biedl syndrome 10, Bardet-Biedl syndrome, BBS10-related disorder |
| RS869025209 | Health Risk | Pathogenic | Bardet-Biedl syndrome 10, Bardet-Biedl syndrome 10 |
| RS869025211 | Health Risk | Pathogenic | Bardet-Biedl syndrome 10, Bardet-Biedl syndrome, Bardet-Biedl syndrome 10 |
| RS886042729 | Health Risk | Pathogenic | Bardet-Biedl syndrome 10, Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS886043841 | Health Risk | Pathogenic | Bardet-Biedl syndrome 10, Bardet-Biedl syndrome, BBS10-related disorder |
| RS1057516266 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome 10, Bardet-Biedl syndrome, Bardet-Biedl syndrome 10 |
| RS1057516628 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome 10, Bardet-Biedl syndrome, Bardet-Biedl syndrome 10 |
| RS1057516754 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome 10, Bardet-Biedl syndrome, Bardet-Biedl syndrome 10 |
| RS1057517156 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome 10, Bardet-Biedl syndrome, Bardet-Biedl syndrome 10 |
| RS1064796315 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome 10, Bardet-Biedl syndrome |
| RS1191479533 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome 10, Bardet-Biedl syndrome |
| RS1266814704 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome 10, Bardet-Biedl syndrome |
| RS1368733646 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome 10, Bardet-Biedl syndrome |
| RS1460517643 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome 1, Bardet-Biedl syndrome 10, Bardet-Biedl syndrome |
| RS1462503482 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome 10, Bardet-Biedl syndrome |
| RS1476664656 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome 10, Bardet-Biedl syndrome |
| RS1555202662 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome 10, Bardet-Biedl syndrome |
| RS1555202695 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome 10, Bardet-Biedl syndrome |
| RS1555202697 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome 10, Bardet-Biedl syndrome, Bardet-Biedl syndrome 10 |
| RS1565810107 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome 10, Bardet-Biedl syndrome, Bardet-Biedl syndrome 10 |
| RS1592491950 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome 10, Bardet-Biedl syndrome, Bardet-Biedl syndrome 10 |
| RS1951753726 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome 10, Bardet-Biedl syndrome |
| RS1951766517 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome 10, Bardet-Biedl syndrome |
| RS1951771573 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome 10, Bardet-Biedl syndrome |
| RS202228478 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome 10, Bardet-Biedl syndrome, Bardet-Biedl syndrome 10 |
| RS2136090024 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome 10, Bardet-Biedl syndrome |
| RS2136091244 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome 10, Bardet-Biedl syndrome |
| RS2136091654 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome 10, Bardet-Biedl syndrome, Bardet-Biedl syndrome 10 |
| RS2540955346 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome 10, Bardet-Biedl syndrome, Bardet-Biedl syndrome 10 |
| RS2540955435 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome 10, Bardet-Biedl syndrome, Bardet-Biedl syndrome 10 |
| RS2540956341 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome 10, Bardet-Biedl syndrome, Bardet-Biedl syndrome 10 |
| RS2540957265 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome 10, Bardet-Biedl syndrome, Bardet-Biedl syndrome 10 |
| RS2540957989 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome 10, Bardet-Biedl syndrome, Bardet-Biedl syndrome 10 |
| RS553291328 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome 10, Bardet-Biedl syndrome |
| RS748601201 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome 10, Bardet-Biedl syndrome |
| RS753604828 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome 10, Bardet-Biedl syndrome, Bardet-Biedl syndrome 10 |
| RS756632517 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa, Bardet-Biedl syndrome, Bardet-Biedl syndrome 10 |
| RS758732081 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome 10, Bardet-Biedl syndrome, Bardet-Biedl syndrome 10 |
| RS759185809 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome 10, Bardet-Biedl syndrome, BBS10-related disorder |
| RS760693838 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome 10, Bardet-Biedl syndrome, Retinal dystrophy |
| RS768385647 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome 10, Bardet-Biedl syndrome, Bardet-Biedl syndrome 10 |
| RS768933093 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Bardet-Biedl syndrome 10, 6 conditions |
| RS769028262 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome 10, Bardet-Biedl syndrome, Bardet-Biedl syndrome 10 |
| RS774095109 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome 10, Bardet-Biedl syndrome, Bardet-Biedl syndrome 10 |
| RS775090151 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome 10, Bardet-Biedl syndrome |
| RS775950661 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome 10, Retinal dystrophy |
| RS778431173 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Bardet-Biedl syndrome, Bardet-Biedl syndrome 1 |
| RS786204573 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome 10, Bardet-Biedl syndrome, Bardet-Biedl syndrome 10 |
| RS786204575 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome 10, Bardet-Biedl syndrome, BBS10-related disorder |