Genomics England

Panel	Mode of inheritance	Details
Filter panels5 panels
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes ?Orofaciodigital syndrome XV, OMIM:617127, Orofaciodigital syndrome XV, MONDO:0014932
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 4.1	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Orofaciodigital syndrome XV 617127
Green in Renal ciliopathies Component of the following Super Panels: - Cystic renal disease - Paediatric disorders - Rare multisystem ciliopathy Super panel - Unexplained young onset end-stage renal disease Signed-off version 3.7	BIALLELIC, autosomal or pseudoautosomal	Phenotypes ?Orofaciodigital syndrome XV 617127, Joubert syndrome, Short-rib skeletal dysplasia
Green in Skeletal ciliopathies Component of the following Super Panels: - Paediatric disorders - Rare multisystem ciliopathy Super panel Signed-off version 4.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes ?Orofaciodigital syndrome XV 617127, Joubert syndrome, Short-rib skeletal dysplasia
Green in Skeletal dysplasia Component of the following Super Panels: - Paediatric disorders R-numbers: R104 Signed-off version 5.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes ?Orofaciodigital syndrome XV 617127, Joubert syndrome, Short-rib skeletal dysplasia