Skeletal 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

2 reviews

Ivone Leong (Genomics England Curator)

Comment 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: 1.11

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.


Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
  • Illumina TruGenome Clinical Sequencing Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Emory Genetics Laboratory
  • Ellis-van Creveld syndrome, OMIM:225500
Clinvar variants
Variants in EVC
Panels with this gene

History Filter Activity

27 Oct 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: EVC were changed from Ellis-van Creveld syndrome, 225500; Weyers acrodental dysostosis, 193530 to Ellis-van Creveld syndrome, OMIM:225500

10 Jul 2019, Gel status: 3

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

Eleanor Williams (Genomics England Curator)

gene: EVC was added gene: EVC was added to Skeletal ciliopathies. Sources: Emory Genetics Laboratory,Expert list,UKGTN,Radboud University Medical Center, Nijmegen,Expert Review Green,Illumina TruGenome Clinical Sequencing Services 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