Joubert syndrome (JS): genetic classification

Evidence-based neurology checklist on joubert syndrome (js): genetic classification: Genetic types JBTS1: INPP5E gene JBTS2: TMEM216 gene JBTS3: AHI1 gene JBTS4: NPHP1 gene JBTS5: CEP290 (NPHP6) gene JBTS6: TMEM67 gene JBTS7: RPGRIP1L gene JBTS8: ARL13B gene JBTS9: CC2D2A gene JBTS10: CXORF5 gene…

Genetic types

  • JBTS1: INPP5E gene
  • JBTS2: TMEM216 gene
  • JBTS3: AHI1 gene
  • JBTS4: NPHP1 gene
  • JBTS5: CEP290 (NPHP6) gene
  • JBTS6: TMEM67 gene
  • JBTS7: RPGRIP1L gene
  • JBTS8: ARL13B gene
  • JBTS9: CC2D2A gene
  • JBTS10: CXORF5 gene
  • JBTS11: TTC21B gene
  • JBTS12: KIF7 gene
  • JBTS13: TCTN1 gene
  • JBTS14: TMEM237 gene
  • JBTS15: CEP41 gene
  • JBTS16: TMEM138 gene
  • JBTS17: C5ORF42 gene
  • JBTS18: TCTN3 gene
  • JBTS19: ZNF423 gene
  • JBTS20: TMEM231 gene
  • JBTS21: CSPP1 gene
  • JBTS22: PDE6D gene
  • JBTS23: KIAA0586 gene
  • JBTS24: TCTN2 gene
  • JBTS25: CEP104 gene
  • JBTS26: KIAA0556 gene
  • JBTS27: B9D1 gene
  • JBTS28: MKS1 gene
  • JBTS29: TMEM107 gene
  • JBTS30: ARMC9 gene

Other genetic associations

References

  1. Brancati F, Dallapiccola B, Valente EM. Joubert Syndrome and related disorders. Orphanet J Rare Dis 2010; 5:20. 
  2. Ben-Salem S, Al-Shamsi AM, Gleeson JG, Ali BR, Al-Gazali L. Mutation spectrum of Joubert syndrome and related disorders among Arabs. Hum Genome Var 2014; 1:14020. 
  3. López Ruiz P, García García ME, Dicapua Sacoto D, Marcos-Dolado A. Uncrossed epileptic seizures in Joubert syndrome. BMJ Case Rep 2015; pii: bcr2014207719.
  4. Travaglini L, Brancati F, Silhavy J, et al. Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders. Eur J Hum Genet 2013; 21:1074-1078. 
  5. Sang L, Miller JJ, Corbit KC, et al. Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways. Cell 2011; 145:513-528.
  6. And 8 more. Subscribe to see the full list

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