Neurological ciliopathiesGene: EVC2
Comment on list classification: Confirmed DD gene for Ellis-van Creveld syndrome, more than 3 cases/family reports and different variants reported, green on the Unexplained skeletal dysplasia Version 1.3 gene panel.
Created: 13 Dec 2016, 2:07 p.m.
gene: EVC2 was added gene: EVC2 was added to Neurological ciliopathies. Sources: Expert Review Green Mode of inheritance for gene: EVC2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EVC2 were set to Ellis-van Creveld syndrome, 225500; Weyers acrofacial dysostosis, 193530