Skeletal dysplasia
Gene: EVCEnsemblGeneIds (GRCh38): ENSG00000072840
EnsemblGeneIds (GRCh37): ENSG00000072840
OMIM: 604831, Gene2Phenotype
EVC is in 14 panels
4 reviews
Tracy Lester (Genetics laboratory, Oxford UK)
Cilliopathies with major skeletal involvement gp of SDs, Dysostoses with predominant craniofacial involvement gp of SD. Several cases reported in EVC. Weyers acrodental dysostosis, 193530, may be allelic disorder with both phenotypes reported in one family (Weyers het, EVC comp het). Green for EVC.; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ECV1; Ellis-van Creveld syndrome, 225500;
Eleanor Williams (Genomics England Curator)
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: EVC; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:36 a.m.
Sarah Leigh (Genomics England Curator)
Listed as associated with Skeletal Dysplasia by Gene Advisor (June 2016), Steve AbbsCreated: 27 Jul 2016, 9:34 a.m.
Ana Beleza (Bristol Regional Genetics Service)
Tier 1Created: 17 Jun 2016, 8:03 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Ellis-van Creveld syndrome 225500; Weyers acrodental dysostosis 193530
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- Phenotypes
-
- Ellis-van Creveld syndrome, 225500
- ECV1
- Ellis-van Creveld Syndrome
- Ellis-van Creveld syndrome, 225500Weyers acrodental dysostosis, 193530
- OMIM
- 604831
- Clinvar variants
- Variants in EVC
- Penetrance
- Complete
- 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
Set Phenotypes
Eleanor Williams (Genomics England Curator)Added phenotypes ECV1; Ellis-van Creveld syndrome, 225500 for gene: EVC
Added New Source, Status Update
Eleanor Williams (Genomics England Curator)Source NHS GMS was added to EVC. Rating Changed from Green List (high evidence) to Green List (high evidence)
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to version 1 9th August 2016
Set Mode of Inheritance, Added New Source
Sarah Leigh (Genomics England Curator)EVC was added to Unexplained skeletal dysplasiapanel. Source: UKGTN EVC was added to Unexplained skeletal dysplasiapanel. Source: Illumina TruGenome Clinical Sequencing Services EVC was added to Unexplained skeletal dysplasiapanel. Source: Radboud University Medical Center, Nijmegen EVC was added to Unexplained skeletal dysplasiapanel. Source: Emory Genetics Laboratory Model of inheritance for gene EVC was set to BIALLELIC, autosomal or pseudoautosomal
Created
Sarah Leigh (Genomics England Curator)EVC was created by sleigh
Added New Source
Sarah Leigh (Genomics England Curator)EVC was added to Unexplained skeletal dysplasiapanel. Sources: