Adult onset dystonia, chorea or related movement disorder
Gene: ATXN2Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanismCreated: 5 Nov 2021, 3:57 p.m. | Last Modified: 5 Nov 2021, 3:57 p.m.
Panel Version: 1.130
This gene was uploaded from the curation template sent out to the GLHs for GMS Neurology specialist test group as it is a RED gene on the Parkinson Disease and Complex Parkinsonism panel. It relates to the STR ATXN2_CAG (rated GREEN) and not the gene entity, as there are no SNVs for this gene being associated to the disorder, so this gene has been rated as RED.Created: 19 Jun 2019, 3:38 p.m.
Review and rating from Emily Jones (North Bristol NHS Trust) on behalf of South West GLH for GMS Neurology specialist test group.Created: 23 Apr 2019, 12:18 p.m.
Triplet repeat expansionCreated: 23 Apr 2019, 12:14 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Spinocerebellar ataxia 2, 183190; {Amyotrophic lateral sclerosis, susceptibility to, 13}, 183190; {Parkinson disease, late-onset, susceptibility to}, 168600
Mode of pathogenicity
Other - please provide details in the comments
Mode of inheritance for gene: ATXN2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to Other
Phenotypes for gene: ATXN2 were changed from {Parkinson disease, late-onset, susceptibility to}, 168600; (CAGexpansion); familial parkinsonism; Spinocerebellar ataxia 2, 183190; {Amyotrophic lateral sclerosis, susceptibility to, 13}, 183190 to Spinocerebellar ataxia 2, OMIM:183090; {Amyotrophic lateral sclerosis, susceptibility to, 13}, OMIM:183090; {Parkinson disease, late-onset, susceptibility to}, OMIM:168600
Tag nucleotide-repeat-expansion tag was added to gene: ATXN2. Tag currently-ngs-unreportable tag was added to gene: ATXN2.
Added phenotypes {Parkinson disease, late-onset, susceptibility to}, 168600; {Amyotrophic lateral sclerosis, susceptibility to, 13}, 183190; Spinocerebellar ataxia 2, 183190 for gene: ATXN2
Source NHS GMS was added to ATXN2.
Source South West GLH was added to ATXN2.
gene: ATXN2 was added gene: ATXN2 was added to Adult onset movement disorder. Sources: Expert Review Red Mode of inheritance for gene: ATXN2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ATXN2 were set to (CAGexpansion); familial parkinsonism Mode of pathogenicity for gene: ATXN2 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments