Neurological ciliopathies

Gene: EVC

Green List (high evidence)

EVC (EvC ciliary complex subunit 1)
EnsemblGeneIds (GRCh38): ENSG00000072840
EnsemblGeneIds (GRCh37): ENSG00000072840
OMIM: 604831, Gene2Phenotype
EVC is in 15 panels

1 review

Ellen McDonagh (Genomics England Curator)

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.

History Filter Activity

25 Jul 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

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