Ataxia and cerebellar anomalies - narrow panel
STR: ATN1_CAGSTR repeat lengths have been reviewed and confirmed by the NHS Genomic Medicine Service.Created: 15 Mar 2022, 11:38 a.m. | Last Modified: 15 Mar 2022, 11:38 a.m.
Panel Version: 2.288
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, 9:08 a.m. | Last Modified: 8 Oct 2020, 9:08 a.m.
Panel Version: 2.15
Source PanelApp panels : Hereditary ataxia v1.150
Sources: Expert listCreated: 21 Dec 2018, 3:05 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Dentatorubro-pallidoluysian atrophy 125370
Publications
Tag for-review was removed from STR: ATN1_CAG.
Normal Number of Repeats for ATN1_CAG was changed from 35 to 36. Source NHS GMS was added to STR: ATN1_CAG.
Tag watchlist tag was added to STR: ATN1_CAG.
Phenotypes for STR: ATN1_CAG were changed from Dentatorubro-pallidoluysian atrophy 125370 to Dentatorubral-pallidoluysian atrophy, OMIM:125370
Str: atn1_cag has been classified as Amber List (Moderate Evidence).
Tag for-review tag was added to STR: ATN1_CAG.
Louise Daugherty: Source PanelApp panels : Hered
Str: atn1_cag has been classified as Green List (High Evidence).
STR: ATN1_CAG was added STR: ATN1_CAG was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert list STR tags were added to STR: ATN1_CAG. Mode of inheritance for STR: ATN1_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for STR: ATN1_CAG were set to 20301664; 8136840; 20301664; 8136840; 8136826; 7614090 Phenotypes for STR: ATN1_CAG were set to Dentatorubro-pallidoluysian atrophy 125370 Review for STR: ATN1_CAG was set to GREEN