Genomics England

KIAA0753

Panel	Mode of inheritance	Details
Filter panels6 panels
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 3.122	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 3.15	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 Signed-off version 3.3	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 3.14	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 4.31	BIALLELIC, autosomal or pseudoautosomal	Phenotypes ?Orofaciodigital syndrome XV 617127, Joubert syndrome, Short-rib skeletal dysplasia
Green in Unexplained young onset end-stage renal disease R-numbers: R257 Signed-off version 3.11	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Short-rib skeletal dysplasia, ?Orofaciodigital syndrome XV 617127, Joubert syndrome