Neurological ciliopathiesGene: EVC
Comment on list classification: More than 3 cases/families reported for Ellis-van Creveld syndrome, with different variants in this gene. It is also a green genes on the Unexplained skeletal dysplasia gene panel Version 1.3.
Created: 13 Dec 2016, 2:03 p.m.
gene: EVC was added gene: EVC was added to Neurological ciliopathies. Sources: Expert Review Green Mode of inheritance for gene: EVC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EVC were set to Ellis-van Creveld syndrome, 225500; Weyers acrodental dysostosis, 193530