Skeletal dysplasia
Gene: EVC2
Cilliopathies with major skeletal involvement gp of SDs, Dysostoses with predominant craniofacial involvement gp of SD. Variants in Weyers are dominant and cluster in exon 22, whereas variants in EVC are recessive. Many cases.; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ellis-van Creveld syndrome 225500; Weyers acrofacial dysostosis 193530
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: EVC2; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:36 a.m.
Listed as associated with Skeletal Dysplasia by Gene Advisor (June 2016), Steve AbbsCreated: 27 Jul 2016, 9:34 a.m.
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 acrofacial dysostosis 193530
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Ellis-van Creveld syndrome 225500; Weyers acrofacial dysostosis 193530 for gene: EVC2
Source NHS GMS was added to EVC2. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
Phenotypes for EVC2 were set to Ellis-van Creveld syndrome 225500; Weyers acrofacial dysostosis 193530
Phenotypes for EVC2 were set to Ellis-van Creveld syndrome 225500; Weyers acrofacial dysostosis 193530
EVC2 was added to Unexplained skeletal dysplasiapanel. Source: UKGTN EVC2 was added to Unexplained skeletal dysplasiapanel. Source: Illumina TruGenome Clinical Sequencing Services EVC2 was added to Unexplained skeletal dysplasiapanel. Source: Radboud University Medical Center, Nijmegen EVC2 was added to Unexplained skeletal dysplasiapanel. Source: Emory Genetics Laboratory Model of inheritance for gene EVC2 was set to BIALLELIC, autosomal or pseudoautosomal
EVC2 was created by sleigh
EVC2 was added to Unexplained skeletal dysplasiapanel. Sources: