Skeletal ciliopathies
Gene: EVC
EVC (EvC ciliary complex subunit 1)
EnsemblGeneIds (GRCh38): ENSG00000072840
EnsemblGeneIds (GRCh37): ENSG00000072840
OMIM: 604831, Gene2Phenotype
EVC is in 14 panels
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: 1.11
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.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Illumina TruGenome Clinical Sequencing Services
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- UKGTN
- Expert list
- Emory Genetics Laboratory
- Phenotypes
-
- Ellis-van Creveld syndrome, OMIM:225500
- OMIM
- 604831
- Clinvar variants
- Variants in EVC
- Penetrance
- None
- Panels with this gene
-
- Skeletal dysplasia
- Fetal anomalies
- Thoracic dystrophies
- Primary ciliary disorders
- Osteogenesis imperfecta
- Rare multisystem ciliopathy disorders
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Limb disorders
- Deafness and congenital structural abnormalities
- Ductal plate malformation
- Skeletal ciliopathies
- Neurological ciliopathies
- DDG2P
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