Hereditary ataxia - adult onsetSTR: ATN1_CAG
STR repeat lengths have been reviewed and confirmed by the NHS Genomic Medicine Service.
Created: 15 Mar 2022, 11:39 a.m. | Last Modified: 15 Mar 2022, 11:39 a.m.
Panel Version: 2.147
Discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this STR Green
Created: 5 Aug 2019, 3:09 p.m. | Last Modified: 5 Aug 2019, 3:09 p.m.
Panel Version: 1.194
Green rating for STR submitted on behalf of James Polke, on behalf of London North GLH for GMS Neurology specialist test group. Comment: DRPLA. Triplet repeat. Asked for by Prof Giunti sometimes with ataxia patients with signs of dementia etc.
Created: 27 Apr 2019, 9:31 p.m. | Last Modified: 7 Jul 2019, 3:37 p.m.
Panel Version: 1.174
Source PanelApp panels : Hereditary ataxia 1.148, Brain channelopathy 1.46
Sources: Expert list
Created: 21 Dec 2018, 12:12 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
entatorubro-pallidoluysian atrophy 125370
Normal Number of Repeats for ATN1_CAG was changed from 35 to 36.
Phenotypes for STR: ATN1_CAG were changed from Dentatorubro-pallidoluysian atrophy 125370 to Dentatorubral-pallidoluysian atrophy, OMIM:125370
Source London North GLH was added to STR: ATN1_CAG.
Source NHS GMS was added to STR: ATN1_CAG.
Source Wessex and West Midlands GLH was added to STR: ATN1_CAG. Publications for STR: ATN1_CAG were changed from 20301664; 8136840; 20301664; 8136840; 8136826; 7614090 to 20301664; 8136826; 8136840; 7614090
Louise Daugherty: Source PanelApp panels : Hered
Publications for STR: ATN1_CAG were set to
Phenotypes for STR: ATN1_CAG were changed from entatorubro-pallidoluysian atrophy 125370 to Dentatorubro-pallidoluysian atrophy 125370
Str: atn1_cag has been classified as Green List (High Evidence).
STR: ATN1_CAG was added STR: ATN1_CAG was added to Hereditary ataxia - adult onset. 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 Phenotypes for STR: ATN1_CAG were set to entatorubro-pallidoluysian atrophy 125370 Review for STR: ATN1_CAG was set to GREEN