Renal ciliopathiesGene: TMEM216
Comment on list classification: Promoted from red to green due to expert review. ARG73LEU rs201108965 reported in multiple Ashkenazi Jewish families with Joubert syndrome-2 (a founder mutation). Additional variants reported in Turkish, Tunisian, and Palestinian cases with Joubert syndrome-2 or Meckel syndrome 2.
Created: 28 Aug 2016, 8:22 a.m.
On current diagnostic panel; positive families in patient cohort. Evidence from the literature.
Common Ashkenazi Jewish variant.
Created: 16 Mar 2016, 3:25 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Joubert syndrome: Meckel-Gruber syndrome
Variants in this GENE are reported as part of current diagnostic practice
gene: TMEM216 was added gene: TMEM216 was added to Renal ciliopathies. Sources: Other,Expert list,Expert Review Green,Orphanet Mode of inheritance for gene: TMEM216 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM216 were set to 22282472; 20036350; 20512146 Phenotypes for gene: TMEM216 were set to Joubert syndrome: Meckel-Gruber syndrome; Joubert syndrome with oculorenal defect; Meckel syndrome; Joubert syndrome 2