Ataxia and cerebellar anomalies - narrow panelSTR: ATXN3_CAG
Comment on list classification: Downgraded from Green to Amber as this STR was not listed on the recent GMS STRs document supplied by Jane Deller (NHS England) on behalf of GLHs for the GMS Neurology Test Group
Created: 8 Oct 2020, 9:15 a.m. | Last Modified: 8 Oct 2020, 9:15 a.m.
Panel Version: 2.22
Source PanelApp panels : Hereditary ataxia v1.150
Sources: Expert list
Created: 21 Dec 2018, 3:22 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Machado-Joseph disease 109150
Str: atxn3_cag has been classified as Amber List (Moderate Evidence).
Tag for-review tag was added to STR: ATXN3_CAG.
Louise Daugherty: Source PanelApp panels : Hered
Str: atxn3_cag has been classified as Green List (High Evidence).
STR: ATXN3_CAG was added STR: ATXN3_CAG was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert list STR tags were added to STR: ATXN3_CAG. Mode of inheritance for STR: ATXN3_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for STR: ATXN3_CAG were set to Machado-Joseph disease 109150 Review for STR: ATXN3_CAG was set to GREEN