Table 2.
List of the genes related to Bardet-Biedl syndrome (at the date of 08/2023).
| Gene symbol | BBS | Gene synonyms | Gene category | OMIM | Phenotype | Nb variations (Class 4/5) reported | Status | Reference sequence (RefSeq) | Chromosome | Total nb exons | CDS length (nt) | Protein length (AA) |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| BBS1 | BBS1 | BBSome | 209900 | BBS, RP | > 180 | Core | NM_024649.4 | 11 | 17 | 1782 | 593 | |
| BBS2 | BBS2 | BBS2L1 | BBSome | 606151 | BBS, RP | > 140 | Core | NM_031885.3 | 16 | 17 | 2166 | 721 |
| ARL6 | BBS3 | RP55 | Other | 608845 | BBS, RP | > 30 | Core | NM_032146.4 | 3 | 11 | 561 | 186 |
| BBS4 | BBS4 | BBSome | 600374 | BBS | > 70 | Core | NM_033028.4 | 15 | 18 | 1560 | 519 | |
| BBS5 | BBS5 | BBSome | 603650 | BBS | > 40 | Core | NM_152384.2 | 2 | 17 | 1026 | 341 | |
| MKKS | BBS6 | Chaperonin-like | 604896 | BBS, RP+polydactyly | > 70 | Core | NM_018848.3 | 20 | 7 | 1713 | 570 | |
| BBS7 | BBS7 | BBSome | 607590 | BBS | > 60 | Core | NM_176824.2 | 4 | 20 | 2148 | 715 | |
| TTC8 | BBS8 | RP51 | BBSome | 608132 | BBS, RP | > 20 | Core | NM_144596.2 | 14 | 16 | 1518 | 515 |
| BBS9 | BBS9 | PTHB1 | BBSome | 607968 | BBS, RP | > 60 | Core | NM_198428.2 | 7 | 24 | 2559 | 887 |
| BBS10 | BBS10 | Chaperonin-like | 610148 | BBS, RP | > 180 | Core | NM_024685.3 | 12 | 2 | 2172 | 723 | |
| TRIM32 | BBS11 | HT2A, TATIP | Other | 602290 | BBS, LGMD | 1 paper reporting a single BBS case (homozygous missense), many cases of LGMD | Questioned | NM_012210.3 | 9 | 2 | 1962 | 653 |
| BBS12 | BBS12 | Chaperonin-like | 610683 | BBS | > 100 | Core | NM_152618.2 | 4 | 3 | 2133 | 710 | |
| MKS1 | BBS13 | FLJ20345, POC12, BBS13 | Other | 609883 | BBS, MKS | Mostly truncating variants in MKS patients. Few missenses. No clear association with BBS (clinical details and variant missing) | Need replication | NM_017777.3 | 17 | 20 | 1680 | 559 |
| CEP290 | BBS14 | NPHP6, CEP290, MKS4, JBTS5, SLSN6 | Other | 610142 | BBS, LCA, MKS, NPHP, JBTS, SLNS | 3 truncating variants in 2 families with corresponding phenotype (2 papers) | Need replication | NM_025114.3 | 12 | 55 | 7440 | 2479 |
| WDPCP | BBS15 | fritz, hFrtz, CPLANE5 | Other | 613580 | BBS, RP, MKS, OFD | 1 splice variant in 1 family | Need replication | NM_015910.5 | 2 | 19 | 2469 | 746 |
| SDCCAG8 | BBS16 | CCCAP, NPHP10, NY-CO-8, SLSN7 | Other | 613524 | BBS, NPHP, SLSN | > 10 | Core | NM_006642.3 | 1 | 21 | 2141 | 713 |
| LZTFL1 | BBS17 | Other | 606568 | BBS | 3 variants (2 truncating + 1 missense). 3 patients in 2 families. | Need replication | NM_020347.3 | 3 | 10 | 2360 | 299 | |
| BBIP1 | BBS18 | BBIP10 | BBSome | 613605 | BBS | 2 families + functional data. |
Core Need replication |
NM_001195304.1 | 10 | 5 | 312 | 103 |
| IFT27 | BBS19 | RAYL | IFT | 615870 | BBS | 3 families + functional data. | Core | NM_001177701.1 | 22 | 7 | 1104 | 186 |
| IFT172 | BBS20 | NPHP17 | IFT | 607386 | BBS, RP, SRTD | Truncating variants + missenses, 10 families (personal communication) | Core | NM_015662.2 | 2 | 48 | 5247 | 1749 |
| CFAP48 | BBS21 | FLJ30600, CORD16, RP64, FAP418, MOT25, C8orf37 | Other | 614477 | BBS, RP | 1 truncating variant in 1 family | Need replication | NM_177965.3 | 8 | 6 | 624 | 207 |
| IFT74 | BBS22 | CCDC2 | IFT | 608040 | BBS, JBTS | Truncating variants, 3 families + functional data | Core | NM_025203.3 | 9 | 20 | 1803 | 600 |
| CEP19 | BBS23 | C3orf34 | Other | 615586 | BBS, Morbid Obesity | 1 truncating variant in 1 family | Need replication | NM_032818.4 | 3 | 3 | 504 | 168 |
| SCAPER | BBS24 | ZNF291 | Other | 611611 | BBS, RP + /-ID, RP | 3 reports and non-supporting BBS phenotype |
Need replication Questioned |
NM_001353009.1 | 15 | 33 | 4211 | 1406 |
| CEP164 | BBS25 | NPHP15 | Other | 614848 | BBS, NPHP, JBTS | 1 truncating variant in 1 family | Need replication | NM_014956.4 | 11 | 33 | 4383 | 1460 |
| SCLT1 | BBS26 | Other | 611399 | BBS, SLSN, OFD | 2 splice variants (one in frame deletion) in 2 families | Need replication | NM_144643.4 | 4 | 21 | 2067 | 689 | |
| NPHP1 | NPH1, JBTS4, SLSN1 | 607100 | NPHP | Modifier | NM_000272.3 | 2 | 20 | 2202 | 733 | |||
| CCDC28B | MGC120, RP4-622L5.5 | 610162 | Modifier | |||||||||
| TMEM67 | MKS3, MGC26979, JBTS6, NPHP11 | 609884 | MKS, NPHP | Modifier | ||||||||
| TTC21B | FLJ11457, JBTS11, NPHP12,IFT139B, THM1, FAP60, FLA17 IFT139 | 612014 | Modifier | |||||||||
| Total | 446 | 56934 | 18261 | |||||||||
The publication references linked to the genes can be found with the OMIM number. The official genes names and their synonyms (HUGO Gene Nomenclature Committee) are given together with other annotations. Status of the gene regarding the syndrome has been assessed into several categories including gene undoubtedly associated with BBS (“Core”), gene with good evidence but requires confirmation (“Need replication”) and gene with some evidence but of low impact (“Questioned”). BBS Bardet-Biedl Syndrome, CDS Coding sequence, ID Intellectual Disability, JBTS Joubert Syndrome, LCA Leber Congenital Amaurosis, LGMD Limb Girdle Muscular Dystrophy, MKS Meckel Syndrome, NPHP Nephronophtisis, OFD Oro Facio Digital syndrome, RP Retinitis Pigmentosa, SLNS Senior-Løken Syndrome, SRTD Short-Rib Thoracic Dysplasia.