BBS4 Chromosome 15
Bardet-Biedl syndrome 4
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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 severe pigmentary retinopathy, obesity, polydactyly, renal malformation and cognitive disability. The proteins encoded by BBS gene family members are structurally diverse. The similar phenotypes exhibited by mutations in BBS gene family members are likely due to the protein's 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 has sequence similarity to O-linked N-acetylglucosamine (O-GlcNAc) transferases in plants and archaebacteria and in human forms a multi-protein "BBSome" complex with seven other BBS proteins. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]
Gene Info
Gene Group
"Tetratricopeptide repeat domain containing|BBSome"
Locus Type
gene with protein product
Location
15q24.1
Ensembl
ENSG00000140463
Associated Conditions (15)
Bardet-Biedl syndrome 4
Bardet-Biedl syndrome
BBS4-related disorder
Familial cancer of breast
Thyroid cancer
nonmedullary
1
Inborn genetic diseases
Retinitis pigmentosa
Bardet-Biedl syndrome 1
Retinal dystrophy
Cholangiocarcinoma
Malignant tumor of esophagus
Ovarian serous cystadenocarcinoma
Colon adenocarcinoma
Key Variants
RS1000977139
Conflicting classifications of pathogenicity
Bardet-Biedl syndrome 4, Bardet-Biedl syndrome, BBS4-related disorder
Health Risk
RS1057402744
Conflicting classifications of pathogenicity
Bardet-Biedl syndrome, BBS4-related disorder, Bardet-Biedl syndrome
Health Risk
RS113994186
Conflicting classifications of pathogenicity
Bardet-Biedl syndrome, BBS4-related disorder, Bardet-Biedl syndrome
Health Risk
RS1287237832
Conflicting classifications of pathogenicity
Bardet-Biedl syndrome, Bardet-Biedl syndrome 4, Bardet-Biedl syndrome
Health Risk
RS141345544
Conflicting classifications of pathogenicity
Bardet-Biedl syndrome, Bardet-Biedl syndrome 4, Familial cancer of breast
Health Risk
RS141511580
Conflicting classifications of pathogenicity
Bardet-Biedl syndrome, BBS4-related disorder, Bardet-Biedl syndrome
Health Risk
RS142692981
Conflicting classifications of pathogenicity
Bardet-Biedl syndrome, Bardet-Biedl syndrome 4, BBS4-related disorder
Health Risk
RS148682268
Conflicting classifications of pathogenicity
Bardet-Biedl syndrome, Bardet-Biedl syndrome 4, Bardet-Biedl syndrome
Health Risk
RS150395094
Conflicting classifications of pathogenicity
Bardet-Biedl syndrome, BBS4-related disorder, Bardet-Biedl syndrome
Health Risk
RS151164191
Conflicting classifications of pathogenicity
Bardet-Biedl syndrome, Bardet-Biedl syndrome 4, Bardet-Biedl syndrome
Health Risk
RS1595928075
Conflicting classifications of pathogenicity
Bardet-Biedl syndrome, Bardet-Biedl syndrome
Health Risk
RS200055760
Conflicting classifications of pathogenicity
Bardet-Biedl syndrome, Bardet-Biedl syndrome 4, Bardet-Biedl syndrome
Health Risk
All Variants (157)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1000977139 | Health Risk | Conflicting classifications of pathogenicity | Bardet-Biedl syndrome 4, Bardet-Biedl syndrome, BBS4-related disorder |
| RS1057402744 | Health Risk | Conflicting classifications of pathogenicity | Bardet-Biedl syndrome, BBS4-related disorder, Bardet-Biedl syndrome |
| RS113994186 | Health Risk | Conflicting classifications of pathogenicity | Bardet-Biedl syndrome, BBS4-related disorder, Bardet-Biedl syndrome |
| RS1287237832 | Health Risk | Conflicting classifications of pathogenicity | Bardet-Biedl syndrome, Bardet-Biedl syndrome 4, Bardet-Biedl syndrome |
| RS141345544 | Health Risk | Conflicting classifications of pathogenicity | Bardet-Biedl syndrome, Bardet-Biedl syndrome 4, Familial cancer of breast |
| RS141511580 | Health Risk | Conflicting classifications of pathogenicity | Bardet-Biedl syndrome, BBS4-related disorder, Bardet-Biedl syndrome |
| RS142692981 | Health Risk | Conflicting classifications of pathogenicity | Bardet-Biedl syndrome, Bardet-Biedl syndrome 4, BBS4-related disorder |
| RS148682268 | Health Risk | Conflicting classifications of pathogenicity | Bardet-Biedl syndrome, Bardet-Biedl syndrome 4, Bardet-Biedl syndrome |
| RS150395094 | Health Risk | Conflicting classifications of pathogenicity | Bardet-Biedl syndrome, BBS4-related disorder, Bardet-Biedl syndrome |
| RS151164191 | Health Risk | Conflicting classifications of pathogenicity | Bardet-Biedl syndrome, Bardet-Biedl syndrome 4, Bardet-Biedl syndrome |
| RS1595928075 | Health Risk | Conflicting classifications of pathogenicity | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS200055760 | Health Risk | Conflicting classifications of pathogenicity | Bardet-Biedl syndrome, Bardet-Biedl syndrome 4, Bardet-Biedl syndrome |
| RS2065932944 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Bardet-Biedl syndrome, Inborn genetic diseases |
| RS2065938100 | Health Risk | Conflicting classifications of pathogenicity | Bardet-Biedl syndrome 4, Bardet-Biedl syndrome 4 |
| RS2277596 | Health Risk | Conflicting classifications of pathogenicity | Bardet-Biedl syndrome 4, Bardet-Biedl syndrome, Bardet-Biedl syndrome 4 |
| RS267604309 | Health Risk | Conflicting classifications of pathogenicity | Bardet-Biedl syndrome, Bardet-Biedl syndrome 4, Bardet-Biedl syndrome |
| RS35132058 | Health Risk | Conflicting classifications of pathogenicity | Bardet-Biedl syndrome 4, Bardet-Biedl syndrome, Bardet-Biedl syndrome 4 |
| RS369958857 | Health Risk | Conflicting classifications of pathogenicity | Bardet-Biedl syndrome 4, Bardet-Biedl syndrome, Bardet-Biedl syndrome 4 |
| RS3759869 | Health Risk | Conflicting classifications of pathogenicity | Bardet-Biedl syndrome, Bardet-Biedl syndrome 4, Bardet-Biedl syndrome |
| RS398124432 | Health Risk | Conflicting classifications of pathogenicity | Bardet-Biedl syndrome, BBS4-related disorder, Bardet-Biedl syndrome |
| RS41277724 | Health Risk | Conflicting classifications of pathogenicity | Bardet-Biedl syndrome 4, Bardet-Biedl syndrome 4 |
| RS561284402 | Health Risk | Conflicting classifications of pathogenicity | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS748758201 | Health Risk | Conflicting classifications of pathogenicity | Bardet-Biedl syndrome, Retinitis pigmentosa, BBS4-related disorder |
| RS75295839 | Health Risk | Conflicting classifications of pathogenicity | Bardet-Biedl syndrome 1, Bardet-Biedl syndrome, Bardet-Biedl syndrome 4 |
| RS754709708 | Health Risk | Conflicting classifications of pathogenicity | Bardet-Biedl syndrome, Bardet-Biedl syndrome 4, Bardet-Biedl syndrome |
| RS754792792 | Health Risk | Conflicting classifications of pathogenicity | Bardet-Biedl syndrome, BBS4-related disorder, Bardet-Biedl syndrome 4 |
| RS766664389 | Health Risk | Conflicting classifications of pathogenicity | Bardet-Biedl syndrome 4, Bardet-Biedl syndrome, Bardet-Biedl syndrome 4 |
| RS770577174 | Health Risk | Conflicting classifications of pathogenicity | Retinal dystrophy, Retinitis pigmentosa, Bardet-Biedl syndrome |
| RS772548770 | Health Risk | Conflicting classifications of pathogenicity | Bardet-Biedl syndrome 4, Bardet-Biedl syndrome, Bardet-Biedl syndrome 4 |
| RS778651927 | Health Risk | Conflicting classifications of pathogenicity | Bardet-Biedl syndrome 4, Bardet-Biedl syndrome, Bardet-Biedl syndrome 4 |
| RS780269741 | Health Risk | Conflicting classifications of pathogenicity | Bardet-Biedl syndrome, Bardet-Biedl syndrome 4, BBS4-related disorder |
| RS780560947 | Health Risk | Conflicting classifications of pathogenicity | Bardet-Biedl syndrome, Bardet-Biedl syndrome 4, BBS4-related disorder |
| RS886038704 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS886042845 | Health Risk | Conflicting classifications of pathogenicity | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS1034973830 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 4, Bardet-Biedl syndrome 4 |
| RS1180642796 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome 4, Bardet-Biedl syndrome |
| RS1261627387 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 4, Bardet-Biedl syndrome 4 |
| RS1389369745 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 4, Bardet-Biedl syndrome 4 |
| RS1595935759 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS200113494 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 4, Cholangiocarcinoma, Malignant tumor of esophagus |
| RS2065331078 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 4, Bardet-Biedl syndrome 4 |
| RS2065449579 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 4, Bardet-Biedl syndrome 4 |
| RS2065474809 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS2065735740 | Health Risk | Likely pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS2065932064 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS2065932114 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 4, BBS4-related disorder, Bardet-Biedl syndrome |
| RS2151044091 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome 4, Bardet-Biedl syndrome |
| RS2151047618 | Health Risk | Likely pathogenic | Retinitis pigmentosa, Bardet-Biedl syndrome 4, Bardet-Biedl syndrome 4 |
| RS2151048301 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS2542861731 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |