Genomics England
GMS Panels
Panels
Genes and Entities

ARSA

arylsulfatase A
OMIM: 607574
PanelMode of inheritanceDetails
11 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 3.1
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 2.6
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Metachromatic leukodystrophy, 250100
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ARYLSULFATASE A DEFICIENCY 250100
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 2.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ARYLSULFATASE A DEFICIENCY
Green
in Hereditary ataxia - adult onset
R-numbers: R54
Signed-off version 3.1
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 3.2
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 4.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ARYLSULFATASE A DEFICIENCY
Green
in Lysosomal storage disorder
R-numbers: R276
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Metachromatic leukodystrophy OMIM:250100, metachromatic leukodystrophy, juvenile form MONDO:0009591
Green
in Neurodegenerative disorders - adult onset
R-numbers: R58
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Metachromatic leukodystrophy, OMIM:250100, Dystonia
Green
in White matter disorders - adult onset
R-numbers: R62
Signed-off version 2.1
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 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Metachromatic leukodystrophy, 250100, Arylsulfatase A Deficiency