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Genes (17)
Species:
human : 17 | |
| Human | BBS12 | 166379 | Bardet-Biedl syndrome 12 | Clinical manifestation of some forms of Bardet-Biedl syndrome requires recessive mutation in 1 of the 6 loci plus an additional mutation in a second locus | | Human | BBS5 | 129880 | Bardet-Biedl syndrome 5 | identified BBS5, a novel gene for Bardet-Biedl syndrome; it localizes to basal bodies, is under the regulatory control of daf-19, and is necessary for the generation of both cilia and flagella Clinical manifestation of some forms of Bardet-Biedl syndrome requires recessive mutation in 1 of the 6 loci plus an additional mutation in a second locus Novel mutations in BBS5 highlight the importance of this gene in non-Caucasian Bardet-Biedl syndrome patients | | Human | TTC8 | 123016 | tetratricopeptide repeat domain 8 | A homozygous null BBS8 mutation leads to Bardet-Biedl syndrome with randomization of left-right body axis symmetry, a known defect of the nodal cilium Clinical manifestation of some forms of Bardet-Biedl syndrome requires recessive mutation in 1 of the 6 loci plus an additional mutation in a second locus | | Human | TMEM67 | 91147 | transmembrane protein 67 | Mutations in MKS3 is associated with Bardet-Biedl syndrome Clinical manifestation of some forms of Bardet-Biedl syndrome requires recessive mutation in 1 of the 6 loci plus an additional mutation in a second locus | | Human | ARL6 | 84100 | ADP-ribosylation factor-like 6 | Clinical manifestation of some forms of Bardet-Biedl syndrome requires recessive mutation in 1 of the 6 loci plus an additional mutation in a second locus We uncovered four different homozygous substitutions in ARL6 in four unrelated families affected with Bardet-Biedl syndrome, two of which disrupt a threonine residue important for GTP binding and function of several related small GTP-binding proteins | | Human | CEP290 | 80184 | centrosomal protein 290kDa | Clinical manifestation of some forms of Bardet-Biedl syndrome requires recessive mutation in 1 of the 6 loci plus an additional mutation in a second locus Mutations in CEP290 is associated with Bardet-Biedl syndrome | | Human | BBS10 | 79738 | Bardet-Biedl syndrome 10 | Detected in a family with high consanguinity and Bardet-Biedl syndrome Clinical manifestation of some forms of Bardet-Biedl syndrome requires recessive mutation in 1 of the 6 loci plus an additional mutation in a second locus | | Human | CCDC28B | 79140 | coiled-coil domain containing 28B | identification of a novel locus, MGC1203, that contributes epistatic alleles to Bardet-Biedl syndrome, a pleiotropic, oligogenic disorder; MGC1203 encodes a pericentriolar protein that interacts and colocalizes with the BBS proteins | | Human | BBS7 | 55212 | Bardet-Biedl syndrome 7 | A novel Bardet-Biedl syndrome protein is identified anad characterized Clinical manifestation of some forms of Bardet-Biedl syndrome requires recessive mutation in 1 of the 6 loci plus an additional mutation in a second locus | | Human | MKS1 | 54903 | Meckel syndrome, type 1 | Clinical manifestation of some forms of Bardet-Biedl syndrome requires recessive mutation in 1 of the 6 loci plus an additional mutation in a second locus Mutations in MKS1 is associated with Bardet-Biedl syndrome | | Human | BBS9 | 27241 | Bardet-Biedl syndrome 9 | Comparative genomics and gene expression analysis identifies PHTB1 protein as BBS9, a new Bardet-Biedl syndrome gene Clinical manifestation of some forms of Bardet-Biedl syndrome requires recessive mutation in 1 of the 6 loci plus an additional mutation in a second locus | | Human | TRIM32 | 22954 | tripartite motif containing 32 | Mutation analysis of TRIM32 shows it is a Bardet-Biedl syndrome gene Clinical manifestation of some forms of Bardet-Biedl syndrome requires recessive mutation in 1 of the 6 loci plus an additional mutation in a second locus | | Human | STUB1 | 10273 | STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase | These results indicate that the MKKS mutants have an abnormal conformation and that chaperone-dependent degradation mediated by CHIP is a key feature of McKusick-Kaufman syndrome/Bardet-Biedl syndrome diseases | | Human | MKKS | 8195 | McKusick-Kaufman syndrome | Clinical manifestation of some forms of Bardet-Biedl syndrome requires recessive mutation in 1 of the 6 loci plus an additional mutation in a second locus | | Human | BBS4 | 585 | Bardet-Biedl syndrome 4 | A novel Frameshift Mutation between the splice donor site and exon 5 of BBS4 in a Bardet-Biedl syndrome patient and a novel heterozygous base substitution in both an affected mother and her affected daughter Clinical manifestation of some forms of Bardet-Biedl syndrome requires recessive mutation in 1 of the 6 loci plus an additional mutation in a second locus | | Human | BBS2 | 583 | Bardet-Biedl syndrome 2 | A novel missense mutation found in BBS2 exon 4 and a novel intronic point mutation found in Bardet-Biedl syndrome patients Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with this protein Clinical manifestation of some forms of Bardet-Biedl syndrome requires recessive mutation in 1 of the 6 loci plus an additional mutation in a second locus | | Human | BBS1 | 582 | Bardet-Biedl syndrome 1 | Clinical manifestation of some forms of Bardet-Biedl syndrome requires recessive mutation in 1 of the 6 loci plus an additional mutation in a second locus |
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