Joubert Syndrome 2 (TMEM216)

Joubert syndrome 2 is an autosomal recessive disorder caused by pathogenic variants in the gene TMEM216. While it has been identified in patients from different ethnicities, it is more prevalent in individuals of Ashkenazi Jewish descent, due to the presence of a founder mutation. Clinical features of Joubert syndrome include intellectual disability, brain malformations, ocular problems including uncontrollable eye movements and loss of vision, and kidney cysts leading to end-stage renal disease. Most patients with Joubert syndrome have a normal life expectancy. It is not currently possible to predict the severity of symptoms based on the genetic variants present.

Disease Name
 GeneGuaranteed Exons 
 Inheritance Ethnicity
 Carrier Frequency
 Detection Rate
Residual Risk

Joubert Syndrome 2TMEM2163, 4 [5] (*7)ARAshkenazi Jewish1 in 110>95%0.000458505272810637
Joubert Syndrome 2TMEM2163, 4 [5] (*7)ARWorldwide< 1 in 500>95%0.000100190361687206