List of diseases covered by
Joubert Syndrome NGS panel
| Gene | Condition |
| AHI1 | Joubert syndrome 3 |
| ARL13B | Joubert syndrome 8 |
| B9D1 | Joubert syndrome 27; Meckel syndrome 9 |
| B9D2 | Joubert syndrome 34 |
| C5orf42 | Joubert syndrome 17; Orofaciodigital syndrome VI |
| CC2D2A | Joubert syndrome 9; Meckel syndrome 6; COACH syndrome |
| CEP290 | Joubert syndrome 5; Meckel syndrome 4; Senior-Loken syndrome 6; Leber congenital amaurosis 10; Bardet-Biedl syndrome 14 |
| CEP41 | Joubert syndrome 15 |
| CEP104 | Joubert syndrome 25 |
| CSPP1 | Joubert syndrome 21 |
| INPP5E | Joubert syndrome 1; Mental retardation, truncal obesity, retinal dystrophy, and micropenis |
| KIF7 | Joubert syndrome 12; Hydrolethalus syndrome 2; Al-Gazali-Bakalinova syndrome |
| KIAA0556 | Joubert syndrome 26 |
| KIAA0586 | Joubert syndrome 23; Short-rib thoracic dysplasia 14 with polydactyly |
| MKS1 | Joubert syndrome 28; Meckel syndrome 1; Bardet-Biedl syndrome 13 |
| NPHP1 | Joubert syndrome 4; Nephronophthisis 1, juvenile; Senior-Loken syndrome-1 |
| OFD1 | Joubert syndrome 10; Orofaciodigital syndrome I; Simpson-Golabi-Behmel syndrome, type 2; Retinitis pigmentosa 23 |
| PDE6D | Joubert syndrome 22 |
| RPGRIP1L | Joubert syndrome 7; COACH syndrome; Meckel syndrome 5 |
| TCTN1 | Joubert syndrome 13 |
| TCTN2 | Joubert syndrome 24; Meckel syndrome 8 |
| TCTN3 | Joubert syndrome 18; Orofaciodigital syndrome IV |
| TMEM138 | Joubert syndrome 16 |
| TMEM216 | Joubert syndrome 2; Meckel syndrome 2 |
| TMEM231 | Joubert syndrome 20; Meckel syndrome 11 |
| TMEM67 | Joubert syndrome 6; Meckel syndrome 3; COACH syndrome; Nephronophthisis 11 |
| TMEM237 | Joubert syndrome 14 |
| TTC21B | Short-rib thoracic dysplasia 4 with or without polydactyly; Nephronophthisis 12 |
| ZNF423 | Joubert syndrome 19 |