Renal ciliopathiesGene: TMEM138
Comment on list classification: Promoted from red to green due to expert review. PMID: 22282472 - different homozygous variants reported in Joubert syndrome patients from multiple Arabian families.
Created: 28 Aug 2016, 8:16 a.m.
On current diagnostic panel; positive families within patient cohort. Evidence from literature.
Created: 16 Mar 2016, 1:46 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
gene: TMEM138 was added gene: TMEM138 was added to Renal ciliopathies. Sources: Other,Expert list,Expert Review Green,Orphanet Mode of inheritance for gene: TMEM138 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM138 were set to 22282472 Phenotypes for gene: TMEM138 were set to Joubert syndrome with oculorenal defect; Joubert syndrome 16