Rare multisystem ciliopathy disorders
Gene: TMEM216Comment 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
Phenotypes
Joubert syndrome: Meckel-Gruber syndrome
Publications
Variants in this GENE are reported as part of current diagnostic practice
Promoted to version 1 by Alice Gardham on 26th January 2017
TMEM216 was added to Rare multisystem ciliopathy disorderspanel. Source: Other
TMEM216 was added to Rare multisystem ciliopathy disorderspanel. Source: Orphanet
This gene has been classified as Green List (High Evidence).
Phenotypes for TMEM216 were set to Joubert syndrome: Meckel-Gruber syndrome
Publications for TMEM216 were set to 22282472; 20036350; 20512146
This gene has been classified as Green List (High Evidence).
TMEM216 was added to Rare multisystem ciliopathy disorderspanel. Sources: Expert list
TMEM216 was created by ellenmcdonagh