Rare multisystem ciliopathy disorders
Gene: EVCComment on phenotypes: It is also associated with ?Weyers acrofacial dysostosis, OMIM:193530.Created: 27 Oct 2021, 12:19 p.m. | Last Modified: 27 Oct 2021, 12:19 p.m.
Panel Version: 1.149
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.
Phenotypes for gene: EVC were changed from Ellis-van Creveld syndrome, 225500; Weyers acrodental dysostosis, 193530 to Ellis-van Creveld syndrome, OMIM:225500
Promoted to version 1 by Alice Gardham on 26th January 2017
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
EVC was added to Rare multisystem ciliopathy disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services
EVC was added to Rare multisystem ciliopathy disorderspanel. Sources: UKGTN
EVC was added to Rare multisystem ciliopathy disorderspanel. Sources: Emory Genetics Laboratory
EVC was added to Rare multisystem ciliopathy disorderspanel. Sources: Radboud University Medical Center, Nijmegen
Phenotypes for gene EVC were set to Ellis-van Creveld syndrome, 225500;Weyers acrodental dysostosis, 193530
EVC was created by ellenmcdonagh
EVC was added to Rare multisystem ciliopathy disorderspanel. Sources: Expert list