Skeletal ciliopathies

Gene: EVC2

Green List (high evidence)

EVC2 (EvC ciliary complex subunit 2)
EnsemblGeneIds (GRCh38): ENSG00000173040
EnsemblGeneIds (GRCh37): ENSG00000173040
OMIM: 607261, Gene2Phenotype
EVC2 is in 15 panels

1 review

Ellen McDonagh (Genomics England Curator)

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.


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, 225500
  • Weyers acrofacial dysostosis, 193530
Clinvar variants
Variants in EVC2
Panels with this gene

History Filter Activity

10 Jul 2019, Gel status: 3

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

Eleanor Williams (Genomics England Curator)

gene: EVC2 was added gene: EVC2 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: EVC2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EVC2 were set to Ellis-van Creveld syndrome, 225500; Weyers acrofacial dysostosis, 193530