BBS7 Chromosome 4
Bardet-Biedl syndrome 7
Upload your DNA to see your personal genotypes for variants in BBS7.
What This Gene Does
This gene encodes one of eight proteins that form the BBSome complex containing BBS1, BBS2, BBS4, BBS5, BBS7, BBS8, BBS9 and BBIP10. The BBSome complex is believed to recruit Rab8(GTP) to the primary cilium and promote ciliogenesis. The BBSome complex assembly is mediated by a complex composed of three chaperonin-like BBS proteins (BBS6, BBS10, and BBS12) and CCT/TRiC family chaperonins. Mutations in this gene are implicated in Bardet-Biedl syndrome, a genetic disorder whose symptoms include obesity, retinal degeneration, polydactyly and nephropathy; however, mutations in this gene and the BBS8 gene are thought to play a minor role and mutations in chaperonin-like BBS genes are found to be a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population. Two transcript variants encoding distinct isoforms have been identified for this gene.[provided by RefSeq, Oct 2014]
Gene Info
Gene Group
BBSome
Locus Type
gene with protein product
Location
4q27
Ensembl
ENSG00000138686
Associated Conditions (13)
Bardet-Biedl syndrome
Bardet-Biedl syndrome 7
Retinal dystrophy
BBS7-related ciliopathy
Bardet-Biedl syndrome 1
See cases
BBS7-related disorder
Inborn genetic diseases
Gastric cancer
Retinitis pigmentosa
Bardet-Biedl syndrome 1/7
digenic
Optic atrophy
Key Variants
RS111442398
Conflicting classifications of pathogenicity
Bardet-Biedl syndrome, Bardet-Biedl syndrome 7, Retinal dystrophy
Health Risk
RS114718913
Conflicting classifications of pathogenicity
Bardet-Biedl syndrome, Bardet-Biedl syndrome 1, Bardet-Biedl syndrome 7
Health Risk
RS1247015446
Conflicting classifications of pathogenicity
Bardet-Biedl syndrome, Bardet-Biedl syndrome 7, Bardet-Biedl syndrome
Health Risk
RS1341540567
Conflicting classifications of pathogenicity
Bardet-Biedl syndrome 7, Bardet-Biedl syndrome, See cases
Health Risk
RS144525608
Conflicting classifications of pathogenicity
Bardet-Biedl syndrome, Bardet-Biedl syndrome 7, BBS7-related disorder
Health Risk
RS146617227
Conflicting classifications of pathogenicity
Bardet-Biedl syndrome, Bardet-Biedl syndrome 7, Bardet-Biedl syndrome
Health Risk
RS1475632900
Conflicting classifications of pathogenicity
Bardet-Biedl syndrome 7, Bardet-Biedl syndrome, Bardet-Biedl syndrome 7
Health Risk
RS148011561
Conflicting classifications of pathogenicity
Bardet-Biedl syndrome, BBS7-related disorder, Bardet-Biedl syndrome 7
Health Risk
RS1484511643
Conflicting classifications of pathogenicity
Bardet-Biedl syndrome, Bardet-Biedl syndrome 7, Bardet-Biedl syndrome
Health Risk
RS199812109
Conflicting classifications of pathogenicity
Bardet-Biedl syndrome, Bardet-Biedl syndrome 7, Bardet-Biedl syndrome
Health Risk
RS200770952
Conflicting classifications of pathogenicity
Bardet-Biedl syndrome, Inborn genetic diseases, BBS7-related disorder
Health Risk
RS202102193
Conflicting classifications of pathogenicity
Bardet-Biedl syndrome, Bardet-Biedl syndrome 7, Bardet-Biedl syndrome
Health Risk
All Variants (140)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2476633187 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 7, Bardet-Biedl syndrome 7 |
| RS2476801673 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 7, Bardet-Biedl syndrome 7 |
| RS2476802894 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 7, Bardet-Biedl syndrome 7 |
| RS2476803278 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS2476804031 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 7, Bardet-Biedl syndrome 7 |
| RS2476804042 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 7, Bardet-Biedl syndrome 7 |
| RS72680775 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 7, Bardet-Biedl syndrome 7 |
| RS752429735 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 7, Bardet-Biedl syndrome 7 |
| RS763719688 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome 7, Bardet-Biedl syndrome 7 |
| RS764862220 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS765109765 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 7, Bardet-Biedl syndrome 7 |
| RS768257998 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 7, Bardet-Biedl syndrome 7 |
| RS779596692 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 7, Bardet-Biedl syndrome 7 |
| RS869025207 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 7, Retinal dystrophy, Bardet-Biedl syndrome 7 |
| RS932897330 | Health Risk | Likely pathogenic | Retinitis pigmentosa, Inborn genetic diseases, Bardet-Biedl syndrome 7 |
| RS1191668967 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS119466002 | Health Risk | Pathogenic | Bardet-Biedl syndrome 1/7, digenic, Bardet-Biedl syndrome |
| RS1291044978 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS1385873554 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS1394015094 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS1553930514 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS1553933472 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS1560647130 | Health Risk | Pathogenic | — |
| RS1560658189 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS1578564877 | Health Risk | Pathogenic | Bardet-Biedl syndrome 7, Bardet-Biedl syndrome 7 |
| RS1725385758 | Health Risk | Pathogenic | Bardet-Biedl syndrome, BBS7-related disorder, Bardet-Biedl syndrome |
| RS1725388372 | Health Risk | Pathogenic | Bardet-Biedl syndrome 7, Bardet-Biedl syndrome 7 |
| RS1725961307 | Health Risk | Pathogenic | Bardet-Biedl syndrome 7, Bardet-Biedl syndrome 7 |
| RS1726067442 | Health Risk | Pathogenic | Inborn genetic diseases, Bardet-Biedl syndrome 7, Inborn genetic diseases |
| RS1726157542 | Health Risk | Pathogenic | Bardet-Biedl syndrome 7, Bardet-Biedl syndrome 7 |
| RS1726566546 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS1726987563 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1727380420 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome 1, Bardet-Biedl syndrome |
| RS2149048173 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS2149054103 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS2149066862 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS2149084861 | Health Risk | Pathogenic | Bardet-Biedl syndrome, BBS7-related disorder, Bardet-Biedl syndrome |
| RS2476445162 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS2476455936 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS2476456347 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS2476456461 | Health Risk | Pathogenic | Bardet-Biedl syndrome 7, Bardet-Biedl syndrome 7 |
| RS2476457200 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS2476496988 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS2476523240 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS2476529741 | Health Risk | Pathogenic | Bardet-Biedl syndrome 7, Bardet-Biedl syndrome 7 |
| RS2476533813 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS2476534000 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS2476548653 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS2476548784 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS2476548951 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |