Genomics England

STRADA

STE20-related kinase adaptor alpha

Panel	Mode of inheritance	Details
Filter panels7 panels
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Polyhydramnios, megalencephaly, and symptomatic epilepsy, OMIM:611087
Green in Early onset or syndromic epilepsy Component of the following Super Panels: - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R59 Signed-off version 5.10	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Polyhydramnios, megalencephaly, and symptomatic epilepsy 611087
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Polyhydramnios, megalencephaly, and symptomatic epilepsy, OMIM:611087, Polyhydramnios, megalencephaly, and symptomatic epilepsy, MONDO:0012611
Green in Hydrocephalus R-numbers: R86 Signed-off version 4.6	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Polyhydramnios, megalencephaly, and symptomatic epilepsy, OMIM:611087
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 6.13	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Polyhydramnios, megalencephaly, and symptomatic epilepsy, MIM:611087 (includes mental retardation), severe psychomotor retardation
Green in Nephrocalcinosis or nephrolithiasis R-numbers: R256 Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Polyhydramnios, megalencephaly, and symptomatic epilepsy, 611087
Green in Unexplained young onset end-stage renal disease R-numbers: R257 Signed-off version 4.4	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Polyhydramnios, megalencephaly, and symptomatic epilepsy, 611087