Genomics England

EvC ciliary complex subunit 2

Panel	Mode of inheritance	Details
Filter panels5 panels
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 8.0	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 8.0	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 7.1	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 7.1	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 10.0	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Ellis-van Creveld syndrome, OMIM:225500, Weyers acrofacial dysostosis, OMIM:193530