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Intellectual disability syndromic and non-syndromic

Gene: ARSA

Green List (high evidence)

ARSA (arylsulfatase A)
EnsemblGeneIds (GRCh38): ENSG00000100299
EnsemblGeneIds (GRCh37): ENSG00000100299
OMIM: 607574, Gene2Phenotype
ARSA is in 19 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association. Typically presents with neurodevelopmental regression, included for completeness. Potentially treatable: BMT; clinical trials under way.
Created: 22 Sep 2022, 1:47 a.m. | Last Modified: 22 Sep 2022, 1:47 a.m.
Panel Version: 0.4944

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Metachromatic leukodystrophy, MIM# 250100

History Filter Activity

22 Sep 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: arsa has been classified as Green List (High Evidence).

22 Sep 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ARSA were changed from to Metachromatic leukodystrophy, MIM# 250100

22 Sep 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: ARSA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

22 Sep 2022, Gel status: 3

Added Tag, Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag treatable tag was added to gene: ARSA. Tag clinical trial tag was added to gene: ARSA.

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ARSA was added gene: ARSA was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ARSA was set to Unknown