Genomics England
GMS Panels
Panels
Genes and Entities

EVC2

EvC ciliary complex subunit 2
OMIM: 607261
PanelMode of inheritanceDetails
5 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ACROFACIAL DYSOSTOSIS WEYERS TYPE 193530, ELLIS-VAN CREVELD SYNDROME 225500
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 7.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Ellis-van Creveld syndrome, OMIM:225500 Weyers acrofacial dysostosis, OMIM:193530
Green
in Neurological ciliopathies
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
  • - Paediatric disorders
  • - Rare multisystem ciliopathy Super panel
Signed-off version 7.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Ellis-van Creveld syndrome, OMIM:225500, Weyers acrofacial dysostosis, OMIM:193530
Green
in Skeletal ciliopathies
Component of the following Super Panels:
  • - Paediatric disorders
  • - Rare multisystem ciliopathy Super panel
Signed-off version 7.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Ellis-van Creveld syndrome, OMIM:225500, Weyers acrofacial dysostosis, OMIM:193530
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 9.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Ellis-van Creveld syndrome, OMIM:225500, Weyers acrofacial dysostosis, OMIM:193530