Hereditary neuropathy or pain disorder

Gene: ARSA

Green List (high evidence)

The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.

Created: 24 Feb 2025, 5:02 p.m. | Last Modified: 24 Feb 2025, 5:02 p.m.

Panel Version: 6.148

ARSA variants are associated with Metachromatic leukodystrophy (OMIM:250100) and as definitive Gen2Phen gene for ARSA-related arylsulfatase A deficiency. Numerous ARSA variants have been reported in numerous unrelated cases of OMIM:250100 (PMID: 1670590; 9600244; 1673291; 1684088).

Created: 29 Aug 2024, 4:24 p.m. | Last Modified: 29 Aug 2024, 4:24 p.m.

Panel Version: 5.13

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

• 1670590
• 9600244
• 1673291
• 1684088

I don't know

Gene rated as Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - syndrome with non-neurological features / Metachromatic leukodystrophy - broader phenotype

Created: 6 Dec 2019, 1:58 p.m. | Last Modified: 6 Dec 2019, 1:58 p.m.

Panel Version: 0.28

Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.

Created: 6 Dec 2019, 1:57 p.m. | Last Modified: 6 Dec 2019, 1:57 p.m.

Panel Version: 0.28

Review and rating uploaded from file (Curation_Template_GMS_Neuro_AR_20190521.xlsx) submitted by Alex Rossor (UCL Institute of Neurology) on behalf of London North GLH for GMS Neurology specialist test group.

Created: 11 Jun 2019, 1:40 p.m.

Green List (high evidence)

Now a broad panel so this gene should be includedin R78

Created: 15 Oct 2024, 10:17 p.m. | Last Modified: 15 Oct 2024, 10:17 p.m.

Panel Version: 5.19

Peripheral neuropathy is a well recognised feature of metachromatic leukodystrophy

Created: 9 Jul 2024, 9:26 p.m. | Last Modified: 9 Jul 2024, 9:26 p.m.

Panel Version: 4.11

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Metachromatic leukodystrophy. 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

Publications

• 31684987