Genomics England

ARSA

arylsulfatase A

Panel	Mode of inheritance	Details
Filter panels13 panels
Green in Adult onset dystonia, chorea or related movement disorder R-numbers: R56 Signed-off version 5.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Metachromatic leukodystrophy, OMIM:250100, metachromatic leukodystrophy, juvenile form, MONDO:0009591
Green in Adult onset leukodystrophy R-numbers: R62 Signed-off version 6.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Metachromatic leukodystrophy, 250100
Green in Adult onset neurodegenerative disorder R-numbers: R58 Signed-off version 8.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Metachromatic leukodystrophy, OMIM:250100, Dystonia
Green in Ataxia and cerebellar anomalies - narrow panel Component of the following Super Panels: - Hereditary ataxia and cerebellar anomalies - childhood onset Signed-off version 8.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Metachromatic leukodystrophy (#250100)
Green in Childhood onset dystonia, chorea or related movement disorder R-numbers: R57 Signed-off version 7.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Metachromatic leukodystrophy, 250100
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 6.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes ARYLSULFATASE A DEFICIENCY 250100
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 6.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes ARYLSULFATASE A DEFICIENCY
Green in Hereditary ataxia with onset in adulthood R-numbers: R54 Signed-off version 8.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Metachromatic leukodystrophy (#250100), Metachromatic Leukodystrophy, 250100
Green in Hereditary neuropathy or pain disorder R-numbers: R78 Signed-off version 7.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Metachromatic leukodystrophy, OMIM:250100, metachromatic leukodystrophy, juvenile form, MONDO:0009591
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 9.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes ARYLSULFATASE A DEFICIENCY
Green in Likely inborn error of metabolism Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R98 Signed-off version 8.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Metachromatic leukodystrophy
Green in Lysosomal storage disorder R-numbers: R276 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Metachromatic leukodystrophy OMIM:250100, metachromatic leukodystrophy, juvenile form MONDO:0009591
Green in White matter disorders and cerebral calcification - narrow panel Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 7.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Metachromatic leukodystrophy, 250100, Arylsulfatase A Deficiency