Renal ciliopathiesGene: TMEM231
Comment on list classification: 2 Joubert families and 2 families with Meckel syndrome. offered on GOS panel
Created: 19 Jan 2017, 4:38 p.m.
On current diagnostic panel; no positive families in patient cohort to date. Evidence from literature.
Created: 16 Mar 2016, 3:30 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
gene: TMEM231 was added gene: TMEM231 was added to Renal ciliopathies. Sources: Emory Genetics Laboratory,Other,Expert list,Radboud University Medical Center, Nijmegen,Orphanet,Expert Review Green Mode of inheritance for gene: TMEM231 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TMEM231 were set to Meckel syndrome; Joubert syndrome 20; Joubert syndrome with oculorenal defect; Joubert syndrome 20, 614970; Meckel syndrome 11, 615397