Renal ciliopathiesGene: 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.
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
Variants in this GENE are reported as part of current diagnostic practice
gene: TMEM237 was added gene: TMEM237 was added to Renal ciliopathies. Sources: Other,Expert list,Expert Review Green,Orphanet Mode of inheritance for gene: TMEM237 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM237 were set to 22152675; 20301500 Phenotypes for gene: TMEM237 were set to Joubert syndrome; Joubert syndrome with oculorenal defect; Joubert syndrome 14