Rare multisystem ciliopathy disorders

Gene: TMEM237

Comment 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.

Green List (high evidence)

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

• 22152675

Variants in this GENE are reported as part of current diagnostic practice