Ciliopathy

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)

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