Genomics England

DDX59

DEAD-box helicase 59

Panel	Mode of inheritance	Details
Filter panels7 panels
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Orofaciodigital syndrome V, OMIM:174300, Orofaciodigital syndrome V, MONDO:0008267
Green in Intellectual disability - microarray and sequencing Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 5.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Orofaciodigital syndrome V, 174300
Green in Limb disorders Component of the following Super Panels: - Paediatric disorders Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Orofaciodigital syndrome V 174300, Polydactyly
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 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Orofaciodigital syndrome V, 174300
Green in Ophthalmological ciliopathies Component of the following Super Panels: - Paediatric disorders - Rare multisystem ciliopathy Super panel Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Orofaciodigital syndrome V, 174300
Green in Renal ciliopathies Component of the following Super Panels: - Cystic renal disease - Paediatric disorders - Rare multisystem ciliopathy Super panel Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Orofaciodigital syndrome V, 174300
Green in Unexplained young onset end-stage renal disease R-numbers: R257 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes