Genomics England

ARSA

arylsulfatase A

Panel	Mode of inheritance	Details
Filter panels11 panels
Green in Ataxia and cerebellar anomalies - narrow panel Component of the following Super Panels: - Hereditary ataxia and cerebellar anomalies - childhood onset Signed-off version 2.23	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Metachromatic leukodystrophy (#250100)
Green in Childhood onset dystonia or chorea or related movement disorder R-numbers: R57 Signed-off version 1.137	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Metachromatic leukodystrophy, 250100
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 2.2	BIALLELIC, autosomal or pseudoautosomal	Phenotypes ARYLSULFATASE A DEFICIENCY 250100
Green in Fetal anomalies R-numbers: R21 Signed-off version 1.92	BIALLELIC, autosomal or pseudoautosomal	Phenotypes ARYLSULFATASE A DEFICIENCY
Green in Hereditary ataxia - adult onset R-numbers: R54 Signed-off version 2.13	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Metachromatic leukodystrophy (#250100), Metachromatic Leukodystrophy, 250100
Green in Inborn errors of metabolism Component of the following Super Panels: - Hypotonic infant - Paediatric disorders - White matter disorders - childhood onset R-numbers: R98 Signed-off version 2.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Metachromatic leukodystrophy
Green in Intellectual disability Component of the following Super Panels: - Hypotonic infant - Paediatric disorders - White matter disorders - childhood onset R-numbers: R29 Signed-off version 3.2	BIALLELIC, autosomal or pseudoautosomal	Phenotypes ARYLSULFATASE A DEFICIENCY
Green in Lysosomal storage disorder R-numbers: R276 Signed-off version 1.2	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Metachromatic leukodystrophy 250100
Green in Neurodegenerative disorders - adult onset R-numbers: R58 Signed-off version 2.178	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Metachromatic leukodystrophy, OMIM:250100, Dystonia
Green in White matter disorders - adult onset R-numbers: R62 Signed-off version 1.25	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Metachromatic leukodystrophy, 250100
Green in White matter disorders and cerebral calcification - narrow panel Component of the following Super Panels: - White matter disorders - childhood onset Signed-off version 1.12	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Metachromatic leukodystrophy, 250100, Arylsulfatase A Deficiency