Rare multisystem ciliopathy disorders
Gene: TMEM237Comment on list classification: Promoted from red to green due to expert review. Homozygous ARG18TER (rs199469707) was identified in Canadian Hutterite patients with Joubert syndrome-14. The variant is found in Canadian Hutterites and Schmiedeleut (S-leut) Hutterites in the US. Additional variants within this gene have been reported in patients with Joubert syndrome with Austrian, Jordanian and European descent. An intergenic MPP4 to TMEM237 deletion that included exons spanning at least 21.5 kb was reported in an exome study of Joubert and Meckel-Gruber syndrome patients (PMID: 26729329).Created: 28 Aug 2016, 8:57 a.m.
On current diagnostic panel; no positive families in patient cohort to date. Evidence from the literature. Common Canadian Hutterite variant.Created: 16 Mar 2016, 3:39 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert 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
TMEM237 was added to Rare multisystem ciliopathy disorderspanel. Source: Other
TMEM237 was added to Rare multisystem ciliopathy disorderspanel. Source: Orphanet
This gene has been classified as Green List (High Evidence).
Phenotypes for TMEM237 were set to Joubert syndrome
Publications for TMEM237 were set to 22152675; 20301500
Publications for TMEM237 were set to 22152675; Joubert syndrome
Publications for TMEM237 were set to 22152675
This gene has been classified as Green List (High Evidence).
TMEM237 was created by ellenmcdonagh
TMEM237 was added to Rare multisystem ciliopathy disorderspanel. Sources: Expert list