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 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ACROFACIAL DYSOSTOSIS WEYERS TYPE 193530, ELLIS-VAN CREVELD SYNDROME 225500
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ELLIS-VAN CREVELD SYNDROME, ACROFACIAL DYSOSTOSIS WEYERS TYPE
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
  • - Paediatric disorders
  • - Rare multisystem ciliopathy Super panel
Signed-off version 1.5
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ellis-van Creveld syndrome, 225500, Weyers acrofacial dysostosis, 193530
Component of the following Super Panels:
  • - Paediatric disorders
  • - Rare multisystem ciliopathy Super panel
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ellis-van Creveld syndrome, 225500, Weyers acrofacial dysostosis, 193530
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ellis-van Creveld syndrome 225500, Weyers acrofacial dysostosis 193530