Table 2.
Summary of BBS genes, references in which they were classified as causative genes of BBS, and BBS genes that cause other ciliopathies (Ref # are PMID).
| Gene | Bardet-Biedl Syndrome | Non-Syndromic Retinitis Pigmentosa | Leber Congenital Amaurosis | Senior-Løken Syndrome | Joubert Syndrome | Meckel-Gruber Syndrome |
|---|---|---|---|---|---|---|
| BBS1 | 12118255 | 23143442 | ||||
| BBS2 | 11285252 | 25541840 | ||||
| ARL6 (BBS3) | 15314642 | 19956407 | ||||
| BBS4 | 11381270 | |||||
| BBS5 | 15137946 | |||||
| MKKS (BBS6) | 10973238 | |||||
| BBS7 | 12567324 | |||||
| TTC8 (BBS8) | 14520415 | 20451172 | ||||
| PTHB1 (BBS9) | 16380913 | |||||
| BBS10 | 20805367 | |||||
| TRIM32 (BBS11) | 16606853 | |||||
| BBS12 | 17160889 | |||||
| MKS1 (BBS13) | 18327255 | 24886560 | 16415886 | |||
| CEP290 (BBS14) | 18327255 | 16909394 | 16682973 | 16682973 | 17564974 | |
| WDPCP (BBS15) | 20671153 | |||||
| SDCCAG8 (BBS16) | 20835237 | 20835237 | ||||
| LZTFL1 (BBS17) | 22510444 | |||||
| BBIP1 (BBS18) | 24026985 | |||||
| IFT27 (BBS19) | 24488770 | |||||
| IFT74 (BBS20) | 27486776 | |||||
| C8ORF37 (BBS21) | 27008867 | 22177090 |