GMS Musculoskeletal specialist test group Skeletal dysplasia
Gene: EVC2

EVC2 (EvC ciliary complex subunit 2)
EnsemblGeneIds (GRCh38): ENSG00000173040
EnsemblGeneIds (GRCh37): ENSG00000173040
OMIM: 607261, Gene2Phenotype
EVC2 is in 14 panels

1 review

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

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 Lester
Created: 6 Mar 2019, 11:52 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ellis-van Creveld syndrome 225500; Weyers acrofacial dysostosis 193530

Created: 6 Mar 2019, 11:52 a.m.

Panel version: 0.2

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
NHS GMS

Phenotypes

Ellis-van Creveld syndrome 225500
Weyers acrofacial dysostosis 193530

OMIM

607261

Clinvar variants

Variants in EVC2

Penetrance

None

Panels with this gene

History Filter Activity

6 Mar 2019, Gel status: 4

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

Eleanor Williams (Genomics England Curator)

gene: EVC2 was added gene: EVC2 was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Green 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

GMS Musculoskeletal specialist test group Skeletal dysplasia Gene: EVC2