White matter disorders and cerebral calcification - childhood onset
Gene: ARSA
ARSA (arylsulfatase A)
EnsemblGeneIds (GRCh38): ENSG00000100299
EnsemblGeneIds (GRCh37): ENSG00000100299
OMIM: 607574, Gene2Phenotype
ARSA is in 20 panels
EnsemblGeneIds (GRCh38): ENSG00000100299
EnsemblGeneIds (GRCh37): ENSG00000100299
OMIM: 607574, Gene2Phenotype
ARSA is in 20 panels
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Metachromatic leukodystrophy, 250100
- Arylsulfatase A Deficiency
- OMIM
- 607574
- Clinvar variants
- Variants in ARSA
- Penetrance
- None
- Panels with this gene
-
- Hereditary ataxia, adult onset
- DDG2P
- Leukodystrophy, adult onset
- White matter disorders and cerebral calcification - childhood onset
- Hereditary neuropathy or pain disorder
- Parkinson Disease and Complex Parkinsonism
- Lysosomal storage disorder
- Ataxia and cerebellar anomalies - childhood onset
- Undiagnosed metabolic disorders
- Inherited white matter disorders
- Hyperammonaemia
- Hereditary ataxia
- Fetal anomalies
- Neurodegenerative disorders, adult onset
- Early onset dystonia
- Likely inborn error of metabolism
- Intellectual disability
- Dystonia, chorea or related movement disorder, childhood onset
- Dystonia, chorea or related movement disorder, adult onset
- Hereditary neuropathy
History Filter Activity
8 Jan 2019, Gel status: 4
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked against super panel made up of the panel constituents. Ready to promote to version 1
8 Jan 2019, Gel status: 4
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for gene: ARSA were changed from Metachromatic leukodystrophy (Arylsulfatase A Deficiency) to Metachromatic leukodystrophy, 250100; Arylsulfatase A Deficiency
19 Dec 2018, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: ARSA was added gene: ARSA was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: ARSA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ARSA were set to Metachromatic leukodystrophy (Arylsulfatase A Deficiency)