Joubert syndrome (JS)
| Gene name | Transcript | Clinical sensitivity |
| AHI1 | ENST00000367800 | 6-16% [104-108] |
| ARL13B | ENST00000394222 | n/a |
| C5orf42 | ENST00000425232 | |
| CC2D2A | ENST00000503292 | 10% [106,108,109] |
| CEP290 | ENST00000552810 | 2-25% [105,106,108] |
| CEP41 | ENST00000223208 | n/a |
| CSPP1 | ENST00000262210 | 2-5% [106,110] |
| INPP5E | ENST00000371712 | 2-4% [106,108,110] |
| KIF7 | ENST00000394412 | n/a |
| NPHP1 | ENST00000393272 | 2-7% [111-114] |
| RPGR | ENST00000378505 | 2-5% [106,108,110,115] |
| RPGRIP1L | ENST00000379925 | |
| TCTN1 | ENST00000397659 | n/a |
| TCTN2 | ENST00000303372 | n/a |
| TCTN3 | ENST00000265993 | n/a |
| TMEM138 | ENST00000278826 | n/a |
| TMEM216 | ENST00000334888 | 3% [110,116] |
| TMEM231 | ENST00000258173 | n/a |
| TMEM237 | ENST00000409883 | <1% [105,106] |
| TMEM67 | ENST00000453321 | 1-10% (Joubert syndrome) [106,108,110,117- 119]/ 15-28% (Meckel syndrome) [120,121] |
Orofaciodigital syndrome (OFD)
| Gene name | Transcript | Clinical sensitivity |
| C2CD3 | ENST00000334126 | |
| C5orf42 | ENST00000425232 | 11-47% [122,123] |
| OFD1 | ENST00000340096 | 50-81% [124-126] |
| TCTN3 | ENST00000265993 | n/a |
| TMEM216 | ENST00000334888 | n/a |
| TMEM231 | ENST00000258173 | n/a |
Short rib thoracic dysplasia (Jeune syndrome)
| Gene name | Transcript | Clinical sensitivity |
| CEP120 | ENST00000328236 | |
| DYNC2H1 | ENST00000398093 | |
| IFT140 | ENST00000426508 | |
| IFT172 | ENST00000260570 | |
| IFT52 (IFT46) | ENST00000264020 | |
| IFT80 | ENST00000326448 | |
| KIAA0586 | ENST00000354386 | |
| NEK1 | ENST00000507142 | |
| TTC21B | ENST00000243344 | |
| WDR19 | ENST00000399820 | |
| WDR34 | ENST00000372715 | |
| WDR35 | ENST00000345530 | |
| WDR60 | ENST00000407559 |
Clinical genetics and genomics laboratory
Ground floor (level 2), Sydney wing, Royal Brompton Hospital, Sydney Street, London, SW3 6NP
Telephone: 020 7352 8121 ext. 83009
Email: rbh-tr.genomics@nhs.net or geneticslab@rbht.nhs.uk
Opening hours: Monday to Friday, 9 am - 5 pm
Head of laboratory: Dr Deborah Morris-Rosendahl
Useful documents
Molecular genetic testing request and consent form (pdf, 431KB)
Non-NHS molecular genetic testing request and consent form (pdf, 493KB)