BBS10 Chromosome 12

Bardet-Biedl syndrome 10
254 variants 254 Health Risk

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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
RS1051916652 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, BBS10-related disorder, Inborn genetic diseases
RS1176176320 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Bardet-Biedl syndrome, Retinal dystrophy
RS1242888821 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Inborn genetic diseases, Bardet-Biedl syndrome
RS1318745309 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 10, Bardet-Biedl syndrome, Bardet-Biedl syndrome 10
RS137852836 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 10, Bardet-Biedl syndrome 10
RS137852838 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 10, Bardet-Biedl syndrome 10
RS138702315 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 10, Bardet-Biedl syndrome
RS138961848 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 10, BBS10-related disorder
RS139658279 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 1, Bardet-Biedl syndrome 10, Bardet-Biedl syndrome
RS140585012 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 10, BBS10-related disorder
RS141521925 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 10, Bardet-Biedl syndrome
RS141647931 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 10, Bardet-Biedl syndrome, BBS10-related disorder
RS143062348 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Inborn genetic diseases, Bardet-Biedl syndrome
RS143366878 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 10, BBS10-related disorder
RS1444034224 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 10, Inborn genetic diseases
RS146812823 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 10, BBS10-related disorder
RS1484593364 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 10, Bardet-Biedl syndrome, BBS10-related disorder
RS150587582 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 10, Inborn genetic diseases
RS1555202687 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 10, Bardet-Biedl syndrome, Bardet-Biedl syndrome 10
RS1592493118 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 10, Bardet-Biedl syndrome
RS1951764046 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS199878555 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 10, BBS10-related disorder
RS200390697 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 10, Bardet-Biedl syndrome, Bardet-Biedl syndrome 10
RS200718870 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 10, Bardet-Biedl syndrome
RS201335653 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 10, Inborn genetic diseases, BBS10-related disorder
RS202042386 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, BBS10-related disorder, Bardet-Biedl syndrome 10
RS2540955932 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2540956270 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 10, Bardet-Biedl syndrome 10
RS2540956436 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 10, Bardet-Biedl syndrome
RS35676114 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 10, Early onset severe obesity
RS369066076 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 10, Bardet-Biedl syndrome, BBS10-related disorder
RS376030299 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 10, Bardet-Biedl syndrome
RS376497190 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 10, Bardet-Biedl syndrome
RS376613074 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 10, Bardet-Biedl syndrome, Bardet-Biedl syndrome 10
RS537219462 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 10, Bardet-Biedl syndrome, Bardet-Biedl syndrome 10
RS575957641 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 10, Bardet-Biedl syndrome, Bardet-Biedl syndrome 10
RS748732850 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 10, BBS10-related disorder
RS750611000 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 10, BBS10-related disorder
RS750665609 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 10, Bardet-Biedl syndrome, Bardet-Biedl syndrome 10
RS754415474 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 10, Bardet-Biedl syndrome, Bardet-Biedl syndrome 10
RS758730453 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 10, Bardet-Biedl syndrome, BBS10-related disorder
RS764687344 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 10, Bardet-Biedl syndrome
RS770053320 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 10, Bardet-Biedl syndrome
RS771325212 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 10, Bardet-Biedl syndrome
RS771355732 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 10, BBS10-related disorder
RS775386507 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 10, Bardet-Biedl syndrome 10
RS1057516240 Health Risk Likely pathogenic Bardet-Biedl syndrome 10, Bardet-Biedl syndrome 10
RS1057516623 Health Risk Likely pathogenic Bardet-Biedl syndrome 10, Bardet-Biedl syndrome 10
RS1057516669 Health Risk Likely pathogenic Bardet-Biedl syndrome 10, Bardet-Biedl syndrome 10
RS1057516701 Health Risk Likely pathogenic Bardet-Biedl syndrome 10, Bardet-Biedl syndrome 10
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