Ataxia and cerebellar anomalies - narrow panel
STR: ATXN1_CAGSTR repeat lengths have been reviewed and confirmed by the NHS Genomic Medicine Service.Created: 15 Mar 2022, 11:42 a.m. | Last Modified: 15 Mar 2022, 11:42 a.m.
Panel Version: 2.288
Comment on list classification: Downgraded from Green to Amber as this STR was not listed on the recent STRs document supplied by Jane Deller (NHS England) on behalf of GLHs for the GMS Neurology Test GroupCreated: 8 Oct 2020, 9:11 a.m. | Last Modified: 8 Oct 2020, 9:11 a.m.
Panel Version: 2.17
Source PanelApp panels : Hereditary ataxia v1.150
Sources: Expert listCreated: 21 Dec 2018, 3:09 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Spinocerebellar ataxia 1 164400
Tag for-review was removed from STR: ATXN1_CAG.
Normal Number of Repeats for ATXN1_CAG was changed from 35 to 36. Pathogenic Number of Repeats for ATXN1_CAG was changed from 44 to 45. Source NHS GMS was added to STR: ATXN1_CAG.
Phenotypes for STR: ATXN1_CAG were changed from Spinocerebellar ataxia 1 164400 to Spinocerebellar ataxia 1, OMIM:164400
Tag watchlist tag was added to STR: ATXN1_CAG.
Str: atxn1_cag has been classified as Amber List (Moderate Evidence).
Tag for-review tag was added to STR: ATXN1_CAG.
Louise Daugherty: Source PanelApp panels : Hered
Str: atxn1_cag has been classified as Green List (High Evidence).
STR: ATXN1_CAG was added STR: ATXN1_CAG was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert list STR tags were added to STR: ATXN1_CAG. Mode of inheritance for STR: ATXN1_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for STR: ATXN1_CAG were set to Spinocerebellar ataxia 1 164400 Review for STR: ATXN1_CAG was set to GREEN