Genomics England
GMS Panels
Panels
Genes and Entities

EVC

EvC ciliary complex subunit 1
OMIM: 604831
PanelMode of inheritanceDetails
5 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ELLIS-VAN CREVELD SYNDROME 225500, ACROFACIAL DYSOSTOSIS WEYERS TYPE 193530
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ELLIS-VAN CREVELD SYNDROME, ACROFACIAL DYSOSTOSIS WEYERS TYPE
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 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ellis-van Creveld syndrome, OMIM:225500
Green
in Skeletal ciliopathies
Component of the following Super Panels:
  • - Paediatric disorders
  • - Rare multisystem ciliopathy Super panel
Signed-off version 5.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ellis-van Creveld syndrome, OMIM:225500
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ellis-van Creveld syndrome, 225500, ECV1, Ellis-van Creveld Syndrome, Ellis-van Creveld syndrome, 225500Weyers acrodental dysostosis, 193530