Genomics England

ARSA

arylsulfatase A

Panel	Mode of inheritance	Details
Filter panels13 panels
Green in Ataxia and cerebellar anomalies - childhood onset Component of the following Super Panels: - Hereditary ataxia and cerebellar anomalies, childhood onset Signed-off version 9.22	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Metachromatic leukodystrophy (#250100)
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 8.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes ARYLSULFATASE A DEFICIENCY 250100
Green in Dystonia, chorea or related movement disorder, adult onset Component of the following Super Panels: - Adult-onset neurological disorders Signed-off version 6.7	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Metachromatic leukodystrophy, OMIM:250100, metachromatic leukodystrophy, juvenile form, MONDO:0009591
Green in Dystonia, chorea or related movement disorder, childhood onset R-numbers: R57 Signed-off version 8.13	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Metachromatic leukodystrophy, 250100
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 8.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes ARYLSULFATASE A DEFICIENCY
Green in Hereditary ataxia, adult onset Component of the following Super Panels: - Adult-onset neurological disorders Signed-off version 9.4	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Metachromatic leukodystrophy (#250100), Metachromatic Leukodystrophy, 250100
Green in Hereditary neuropathy or pain disorder R-numbers: R78 Signed-off version 8.30	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: - Hypotonic infant - Leukodystrophy, childhood onset - Paediatric disorders Signed-off version 11.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Metachromatic leukodystrophy, OMIM:250100, metachromatic leukodystrophy, MONDO:0018868, arylsulfatase A deficiency
Green in Leukodystrophy, adult onset R-numbers: R62 Signed-off version 7.8	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Metachromatic leukodystrophy, 250100
Green in Likely inborn error of metabolism Component of the following Super Panels: - Hypotonic infant - Leukodystrophy, childhood onset - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R98 Signed-off version 9.29	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Metachromatic leukodystrophy, OMIM:250100, metachromatic leukodystrophy, MONDO:0018868, arylsulfatase A deficiency
Green in Lysosomal storage disorder R-numbers: R276 Signed-off version 3.10	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Metachromatic leukodystrophy OMIM:250100, metachromatic leukodystrophy, juvenile form MONDO:0009591
Green in Neurodegenerative disorders, adult onset Component of the following Super Panels: - Adult-onset neurological disorders Signed-off version 9.4	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Metachromatic leukodystrophy, OMIM:250100, Dystonia
Green in White matter disorders and cerebral calcification - childhood onset Component of the following Super Panels: - Leukodystrophy, childhood onset - Paediatric disorders Signed-off version 8.6	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Metachromatic leukodystrophy, 250100, Arylsulfatase A Deficiency