BBS5 Chromosome 2
Bardet-Biedl syndrome 5
Upload your DNA to see your personal genotypes for variants in BBS5.
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 required for the formation of cilia. Alternate transcriptional splice variants have been observed but have not been fully characterized. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
BBSome
Locus Type
gene with protein product
Location
2q31.1
Ensembl
ENSG00000163093
Associated Conditions (23)
Cone dystrophy
Bardet-Biedl syndrome
Uterine corpus endometrial carcinoma
Colorectal cancer
Familial cancer of breast
Intellectual disability
Retinal dystrophy
Colon adenocarcinoma
Sarcoma
Lung cancer
Gastric cancer
Thyroid cancer
nonmedullary
1
Melanoma
Cholangiocarcinoma
Inborn genetic diseases
Bardet-Biedl syndrome 5
BBS5-related disorder
Malignant tumor of esophagus
+3 more conditions
Key Variants
RS137853921
Conflicting classifications of pathogenicity
Cone dystrophy, Bardet-Biedl syndrome, Uterine corpus endometrial carcinoma
Health Risk
RS1397496181
Conflicting classifications of pathogenicity
Bardet-Biedl syndrome, Inborn genetic diseases, Bardet-Biedl syndrome 5
Health Risk
RS143113298
Conflicting classifications of pathogenicity
Bardet-Biedl syndrome, Bardet-Biedl syndrome 5, Intellectual disability
Health Risk
RS143191074
Conflicting classifications of pathogenicity
Bardet-Biedl syndrome, Sarcoma, Malignant tumor of esophagus
Health Risk
RS1466289570
Conflicting classifications of pathogenicity
Bardet-Biedl syndrome, Bardet-Biedl syndrome, BBS5-related disorder
Health Risk
RS2468048552
Conflicting classifications of pathogenicity
Bardet-Biedl syndrome, Bardet-Biedl syndrome 5, Bardet-Biedl syndrome
Health Risk
RS369075832
Conflicting classifications of pathogenicity
Bardet-Biedl syndrome, Bardet-Biedl syndrome 5, Inborn genetic diseases
Health Risk
RS370849006
Conflicting classifications of pathogenicity
Bardet-Biedl syndrome, Bardet-Biedl syndrome 5, BBS5-related disorder
Health Risk
RS564412855
Conflicting classifications of pathogenicity
Bardet-Biedl syndrome, Bardet-Biedl syndrome 5, Bardet-Biedl syndrome
Health Risk
RS753234582
Conflicting classifications of pathogenicity
Bardet-Biedl syndrome, Retinal dystrophy, Bardet-Biedl syndrome 5
Health Risk
RS1238632042
Likely pathogenic
Cone dystrophy, BBS5-related disorder, Bardet-Biedl syndrome
Health Risk
RS1477098739
Likely pathogenic
Bardet-Biedl syndrome 5, Bardet-Biedl syndrome, Bardet-Biedl syndrome 5
Health Risk
All Variants (60)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS137853921 | Health Risk | Conflicting classifications of pathogenicity | Cone dystrophy, Bardet-Biedl syndrome, Uterine corpus endometrial carcinoma |
| RS1397496181 | Health Risk | Conflicting classifications of pathogenicity | Bardet-Biedl syndrome, Inborn genetic diseases, Bardet-Biedl syndrome 5 |
| RS143113298 | Health Risk | Conflicting classifications of pathogenicity | Bardet-Biedl syndrome, Bardet-Biedl syndrome 5, Intellectual disability |
| RS143191074 | Health Risk | Conflicting classifications of pathogenicity | Bardet-Biedl syndrome, Sarcoma, Malignant tumor of esophagus |
| RS1466289570 | Health Risk | Conflicting classifications of pathogenicity | Bardet-Biedl syndrome, Bardet-Biedl syndrome, BBS5-related disorder |
| RS2468048552 | Health Risk | Conflicting classifications of pathogenicity | Bardet-Biedl syndrome, Bardet-Biedl syndrome 5, Bardet-Biedl syndrome |
| RS369075832 | Health Risk | Conflicting classifications of pathogenicity | Bardet-Biedl syndrome, Bardet-Biedl syndrome 5, Inborn genetic diseases |
| RS370849006 | Health Risk | Conflicting classifications of pathogenicity | Bardet-Biedl syndrome, Bardet-Biedl syndrome 5, BBS5-related disorder |
| RS564412855 | Health Risk | Conflicting classifications of pathogenicity | Bardet-Biedl syndrome, Bardet-Biedl syndrome 5, Bardet-Biedl syndrome |
| RS753234582 | Health Risk | Conflicting classifications of pathogenicity | Bardet-Biedl syndrome, Retinal dystrophy, Bardet-Biedl syndrome 5 |
| RS1238632042 | Health Risk | Likely pathogenic | Cone dystrophy, BBS5-related disorder, Bardet-Biedl syndrome |
| RS1477098739 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 5, Bardet-Biedl syndrome, Bardet-Biedl syndrome 5 |
| RS1559121920 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS1559122157 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 5, Bardet-Biedl syndrome, Bardet-Biedl syndrome 5 |
| RS1559122277 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 5, Bardet-Biedl syndrome 5 |
| RS1559126736 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 5, Bardet-Biedl syndrome 5 |
| RS2105290053 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS2105291750 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS2105303591 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 5, Bardet-Biedl syndrome 5 |
| RS2468033187 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS2468033258 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 5, Bardet-Biedl syndrome 5 |
| RS2468037280 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS769851369 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS786205636 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome 5, Bardet-Biedl syndrome |
| RS786205637 | Health Risk | Likely pathogenic | — |
| RS1054138918 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome 5, BBS5-related disorder |
| RS121908582 | Health Risk | Pathogenic | Bardet-Biedl syndrome 5, Bardet-Biedl syndrome 5 |
| RS1244442256 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS1272140892 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome 5, BBS5-related disorder |
| RS1471916487 | Health Risk | Pathogenic | Bardet-Biedl syndrome 5, Bardet-Biedl syndrome, Bardet-Biedl syndrome 5 |
| RS1574339529 | Health Risk | Pathogenic | Bardet-Biedl syndrome 5, Bardet-Biedl syndrome 5, Bardet-Biedl syndrome |
| RS1683644409 | Health Risk | Pathogenic | Bardet-Biedl syndrome 5, Bardet-Biedl syndrome 5 |
| RS2105297751 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS2105297825 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS2105300418 | Health Risk | Pathogenic | Bardet-Biedl syndrome, BBS5-related disorder, Bardet-Biedl syndrome |
| RS2105304338 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS2468036514 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS2468036567 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS2468041599 | Health Risk | Pathogenic | Bardet-Biedl syndrome 5, Bardet-Biedl syndrome 5 |
| RS2468042346 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS2468042360 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS587777828 | Health Risk | Pathogenic | Bardet-Biedl syndrome 5, Bardet-Biedl syndrome, Bardet-Biedl syndrome 5 |
| RS756684256 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS759233586 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS767221160 | Health Risk | Pathogenic | Bardet-Biedl syndrome 5, Bardet-Biedl syndrome, Bardet-Biedl syndrome 5 |
| RS767822498 | Health Risk | Pathogenic | Bardet-Biedl syndrome 5, Bardet-Biedl syndrome, Bardet-Biedl syndrome 5 |
| RS772757329 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome 5, Bardet-Biedl syndrome |
| RS772852905 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS779405152 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome 5, Bardet-Biedl syndrome |
| RS1172161975 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome 5, Bardet-Biedl syndrome, Bardet-Biedl syndrome 5 |