1. Panels
  2. Hereditary Neuropathy - complex
  3. ARSA
Regions in panel
Prev Next

Hereditary Neuropathy - complex

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)

Progressive neuropathy is a feature of this complex disorder.
Created: 22 Sep 2022, 1:51 a.m. | Last Modified: 22 Sep 2022, 1:51 a.m.
Panel Version: 0.134

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Metachromatic leukodystrophy, MIM# 250100

Created: 22 Sep 2022, 1:51 a.m.
Last Modified: 22 Sep 2022, 1:51 a.m.
Panel version: 0.134

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Metachromatic leukodystrophy, MIM# 250100
  • Severe late infantile form with mental retardation and severe course. Regression before 30 months
  • adult-onset, psychiatric symptoms, leukodystrophy on MRI, progressive neuropathy with SNCV, optic atrophy
OMIM
607574
Clinvar variants
Variants in ARSA
Penetrance
None
Panels with this gene

History Filter Activity

22 Sep 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ARSA were changed from Severe late infantile form with mental retardation and severe course. Regression before 30 months; adult-onset, psychiatric symptoms, leukodystrophy on MRI, progressive neuropathy with SNCV, optic atrophy to Metachromatic leukodystrophy, MIM# 250100; Severe late infantile form with mental retardation and severe course. Regression before 30 months; adult-onset, psychiatric symptoms, leukodystrophy on MRI, progressive neuropathy with SNCV, optic atrophy

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).

13 Jan 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: ARSA was added gene: ARSA was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: ARSA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ARSA were set to Severe late infantile form with mental retardation and severe course. Regression before 30 months; adult-onset, psychiatric symptoms, leukodystrophy on MRI, progressive neuropathy with SNCV, optic atrophy