Renal ciliopathiesGene: CEP41
Comment on list classification: Promoted from red to green due to expert review and >3 unrelated cases in OMIM and different variants reported for Joubert syndrome 15.
Created: 27 Aug 2016, 10:17 a.m.
On current diagnostic panel; no positive families to date. Evidence from literature.
Created: 15 Mar 2016, 2:07 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
gene: CEP41 was added gene: CEP41 was added to Renal ciliopathies. Sources: Other,Expert list,Expert Review Green Mode of inheritance for gene: CEP41 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CEP41 were set to 22246503 Phenotypes for gene: CEP41 were set to Joubert syndrome 15