Adult onset dystonia, chorea or related movement disorder
Gene: ATXN1Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanismCreated: 9 Nov 2021, 4:52 p.m. | Last Modified: 9 Nov 2021, 4:52 p.m.
Panel Version: 1.147
New RED gene added from James Polke (Neurogenetics Laboratory, Institute of Neurology, London), this is likely to relate to the STR ATXN1_CAG and not the gene entity, as there are no SNVs for this gene being associated to the disorder, this gene is rated RED, the STR ATXN1_CAG is rated GREEN. To clarify with the Neurology Test Group in July 2019Created: 19 Jun 2019, 3:31 p.m.
Review and rating submitted by James Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.Created: 23 Apr 2019, 1:19 p.m.
Tag nucleotide-repeat-expansion tag was added to gene: ATXN1. Tag currently-ngs-unreportable tag was added to gene: ATXN1.
Mode of inheritance for gene: ATXN1 was changed from to Other
Phenotypes for gene: ATXN1 were changed from to Spinocerebellar ataxia 1, OMIM:164400
Source NHS GMS was added to ATXN1.
gene: ATXN1 was added gene: ATXN1 was added to Adult onset movement disorder. Sources: London North GLH Mode of inheritance for gene: ATXN1 was set to