Hereditary ataxia - adult onsetGene: ARSA
On Oxford and Sheffield panels. This is a routine metabolic referral type. Would be picked up on biochemistry also.
Created: 27 Apr 2019, 7:39 p.m.
As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene Green
Created: 1 Aug 2019, 3:43 p.m. | Last Modified: 1 Aug 2019, 3:43 p.m.
Panel Version: 1.188
Review and rating submitted by James Polke (Neurogenetics Laboratory, Institute of Neurology, London) on behalf of London North GLH for GMS Neurology specialist test group
Created: 27 Apr 2019, 8:55 p.m.
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.
Created: 15 Apr 2019, 10:21 a.m.
Multiple positive cases in the literature, infantile and later onset cases reported
Created: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Metachromatic Leukodystrophy, 250100
Variants in this GENE are reported as part of current diagnostic practice
Source London North GMS was added to ARSA.
Added phenotypes Metachromatic Leukodystrophy, 250100 for gene: ARSA
Source NHS GMS was added to ARSA.
Source Wessex and West Midlands GLH was added to ARSA.
Checked panel against panel constituents. Ready to promote to version 1.
gene: ARSA was added gene: ARSA was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,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 (#250100)