Rare multisystem ciliopathy disorders
Gene: EVC

EVC (EvC ciliary complex subunit 1)
EnsemblGeneIds (GRCh38): ENSG00000072840
EnsemblGeneIds (GRCh37): ENSG00000072840
OMIM: 604831, Gene2Phenotype
EVC is in 14 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: 1.149

Created: 27 Oct 2021, 12:19 p.m.
Last Modified: 27 Oct 2021, 12:19 p.m.
Panel version: 1.149

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.

Created: 13 Dec 2016, 2:03 p.m.

Panel version: 0.367

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Illumina TruGenome Clinical Sequencing Services
UKGTN
Emory Genetics Laboratory
Radboud University Medical Center, Nijmegen
Expert list

Phenotypes

Ellis-van Creveld syndrome, OMIM:225500

OMIM

604831

Clinvar variants

Variants in EVC

Penetrance

Complete

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

26 Jan 2017, Gel status: 4

panel promoted to version 1

Alice Gardham (Genomics England)

Promoted to version 1 by Alice Gardham on 26th January 2017

19 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

13 Dec 2016, Gel status: 4