Condition: MECKEL SYNDROME, TYPE 2


rs11230683 in TMEM216 gene and MECKEL SYNDROME, TYPE 2 PMID 20512146 2010 Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes.

PMID 23351400 2012 Founder mutations and genotype-phenotype correlations in Meckel-Gruber syndrome and associated ciliopathies.

PMID 21368913 2011 Clinical utility gene card for: Meckel syndrome.

PMID 20036350 2010 Joubert syndrome 2 (JBTS2) in Ashkenazi Jews is associated with a TMEM216 mutation.

PMID 22282472 2012 Evolutionarily assembled cis-regulatory module at a human ciliopathy locus.