Genes included in the targeted enrichment strategy and their associated disorders
| Official gene symbol | BBS# | NPHP# | Other disease-related symbols | # Exons in consensus | # Total exons in all isoforms | Size of coding exons (bp) | Gene size (bp) | Targeted region size |
|---|---|---|---|---|---|---|---|---|
| BBS1* | BBS1 | – | – | 17 | 17 | 1782 | 22 966 | 23 285* |
| BBS2 | BBS2 | – | – | 17 | 17 | 2166 | 35 750 | 3801 |
| ARL6 | BBS3 | – | RP55 | 8 | 11 | 561 | 33 779 | 2123 |
| BBS4* | BBS4 | – | LCA | 16 | 18 | 1560 | 52 292 | 52 611* |
| BBS5 | BBS5 | – | – | 12 | 17 | 1026 | 27 160 | 3997 |
| MKKS | BBS6 | – | – | 6 | 7 | 1713 | 29 034 | 3326 |
| BBS7 | BBS7 | – | – | 19 | 20 | 2148 | 46 008 | 5308 |
| TTC8 | BBS8 | – | RP51 | 15 | 16 | 1518 | 53 358 | 3137 |
| BBS9 | BBS9 | – | – | 23 | 24 | 2559 | 476 529 | 5196 |
| BBS10 | BBS10 | – | – | 2 | 2 | 2172 | 3957 | 3941 |
| TRIM32 | BBS11 | – | LGMD2H; STM | 2 | 2 | 1962 | 13 999 | 4077 |
| BBS12 | BBS12 | – | – | 2 | 3 | 2133 | 12 242 | 3829 |
| MKS1 | BBS13 | – | MKS1 | 18 | 20 | 1680 | 14 170 | 3745 |
| CEP290 | BBS14 | NPHP6 | MKS4; JBTS5; LCA10; SLSN6 | 54 | 55 | 7440 | 93 204 | 10 510 |
| WDPCP | BBS15 | – | – | 18 | 19 | 2469 | 467 317 | 4405 |
| SDCCAG8 | BBS16 | NPHP10 | SLSN7 | 18 | 21 | 2141 | 244 087 | 3599 |
| ALMS1 | – | ALMS; LCA | 23 | 24 | 12 510 | 224 161 | 13 682 | |
| NPHP1 | NPHP1 | JBTS4; SLSN1 | 20 | 22 | 2202 | 81 726 | 3264 | |
| INVS | NPHP2 | – | 17 | 19 | 3198 | 201 916 | 4103 | |
| NPHP3 | NPHP3 | MKS7; RHPD | 27 | 27 | 3993 | 41 823 | 5328 | |
| NPHP4 | NPHP4 | SLSN4 | 30 | 30 | 4281 | 129 662 | 5693 | |
| IQCB1 | NPHP5 | SLSN5 | 15 | 15 | 1797 | 65 317 | 2585 | |
| GLIS2 | NPHP7 | – | 8 | 8 | 1575 | 7374 | 2175 | |
| RPGRIP1L | NPHP8 | MKS5; JBTS7; CS | 27 | 27 | 3708 | 103 954 | 5243 | |
| NEK8 | NPHP9 | – | 15 | 15 | 2079 | 13 953 | 3096 | |
| TMEM67 | NPHP11 | MKS3; JBTS6; CS | 28 | 30 | 2745 | 64 389 | 4797 | |
| TTC21B | NPHP12 | JBTS11; ATD4 | 29 | 29 | 3951 | 79 894 | 5414 | |
| TMEM216 | – | – | MKS2; JBTS2 | 5 | 5 | 447 | 6504 | 1795 |
| AHI1 | – | – | JBTS3 | 27 | 29 | 3591 | 213 794 | 5175 |
| CCDC28B | – | – | – | 6 | 6 | 603 | 4790 | 1079 |
| Total | 483 | 545 | 79 781 | 2 865 109 | 200 319 |
↵* Sequence of the entire gene (coding/non-coding exons, introns) was targeted.
ALMS, Alström syndrome; ATD, asphyxiating thoracic dystrophy; BBS, Bardet-Biedl syndrome; CS, COACH syndrome; JBTS, Joubert syndrome; LCA, Leber congenital amaurosis; LGMD, limb-girdle muscular dystrophy; MKKS, McKusick-Kaufman syndrome; MKS, Meckel-Gruber syndrome; NPHP, nephronophthisis; RHPD, renal-hepatic-pancreatic dysplasia; RP, retinitis pigmentosa; SLSN, Senior-Loken syndrome; STM, sarcotubular myopathy.