GMS Musculoskeletal specialist test group Skeletal dysplasia
Gene: EVC

EVC (EvC ciliary complex subunit 1)
EnsemblGeneIds (GRCh38): ENSG00000072840
EnsemblGeneIds (GRCh37): ENSG00000072840
OMIM: 604831, Gene2Phenotype
EVC 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. 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 Lester
Created: 6 Mar 2019, 11:52 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
ECV1; Ellis-van Creveld syndrome, 225500;

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

ECV1
Ellis-van Creveld syndrome, 225500

OMIM

604831

Clinvar variants

Variants in EVC

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: EVC was added gene: EVC was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: EVC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EVC were set to ECV1; Ellis-van Creveld syndrome, 225500

GMS Musculoskeletal specialist test group Skeletal dysplasia Gene: EVC