Genomics England

HYLS1

HYLS1, centriolar and ciliogenesis associated

Panel	Mode of inheritance	Details
Filter panels8 panels
Green in Clefting Component of the following Super Panels: - Paediatric disorders Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Hydrolethalus syndrome, 236680 (includes Cleft palate, Lateral or midline cleft lip, Lower lip cleft)
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 3.1	BIALLELIC, autosomal or pseudoautosomal	Phenotypes HYDROLETHALUS SYNDROME TYPE 1 236680
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes HYDROLETHALUS SYNDROME TYPE 1
Green in Hydrocephalus R-numbers: R86 Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Hydrolethalus syndrome, OMIM:236680
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 Joubert syndrome, Hydrolethalus syndrome, 236680
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 Joubert syndrome, Hydrolethalus syndrome, 236680
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 Joubert syndrome, Hydrolethalus syndrome, 236680
Green in Unexplained young onset end-stage renal disease R-numbers: R257 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Hydrolethalus syndrome, 236680, Joubert syndrome