Adult onset neurodegenerative disorder
Gene: ATXN2Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanismCreated: 5 Nov 2021, 3:56 p.m. | Last Modified: 5 Nov 2021, 3:56 p.m.
Panel Version: 2.209
Point mutations not associated with SCA2Created: 23 Jul 2019, 3:35 p.m. | Last Modified: 23 Jul 2019, 3:35 p.m.
Panel Version: 1.72
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene RedCreated: 20 Sep 2019, 4:19 p.m. | Last Modified: 20 Sep 2019, 4:19 p.m.
Panel Version: 1.106
Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.Created: 23 Jul 2019, 3:51 p.m. | Last Modified: 23 Jul 2019, 3:51 p.m.
Panel Version: 1.74
Review and rating from Anthony Dallosso (Bristol Genetics Laboratory), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.Created: 23 Apr 2019, 3:05 p.m.
Caused by repeat expansion. Green gene in multiple subpanels.Created: 23 Apr 2019, 2:42 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Spinocerebellar ataxia 2, 183090; familial parkinsonism; {Amyotrophic lateral sclerosis, susceptibility to, 13}, 183090; Spinocerebellarataxia2,183090{Amyotrophiclateralsclerosis,susceptibilityto,13},183090; (CAGexpansion)
Mode of pathogenicity for gene: ATXN2 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - 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 Spinocerebellar ataxia 2, 183090; familial parkinsonism; {Amyotrophic lateral sclerosis, susceptibility to, 13}, 183090; Spinocerebellarataxia2,183090{Amyotrophiclateralsclerosis,susceptibilityto,13},183090; (CAGexpansion) to Spinocerebellar ataxia 2, OMIM:183090; {Amyotrophic lateral sclerosis, susceptibility to, 13}, OMIM:183090; {Parkinson disease, late-onset, susceptibility to}, OMIM:168600
Source Yorkshire and North East GLH was added to ATXN2.
Source NHS GMS was added to ATXN2.
Source South West GLH was added to ATXN2.
Rebecca Foulger: Gene awaiting curator evaluati
Tag currently-ngs-unreportable tag was added to gene: ATXN2.
Tag nucleotide-repeat-expansion tag was added to gene: ATXN2.
Added phenotypes Spinocerebellarataxia2,183090{Amyotrophiclateralsclerosis,susceptibilityto,13},183090 for gene: ATXN2
Added phenotypes familial parkinsonism; (CAGexpansion) for gene: ATXN2
gene: ATXN2 was added gene: ATXN2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: ATXN2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ATXN2 were set to 24488689 Phenotypes for gene: ATXN2 were set to Spinocerebellar ataxia 2, 183090; {Amyotrophic lateral sclerosis, susceptibility to, 13}, 183090