Adult onset dystonia, chorea or related movement disorder
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: 1.166
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 GreenCreated: 5 Aug 2019, 3:06 p.m. | Last Modified: 5 Aug 2019, 3:06 p.m.
Panel Version: 0.91
Source PanelApp panels : Parkinson Disease and Complex Parkinsonism v1.64, Brain channelopathy v1.48
Sources: Expert listCreated: 11 Jan 2019, 1:08 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Dentatorubro-pallidoluysian atrophy 125370
Publications
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 NHS GMS was added to STR: ATN1_CAG.
Str: atn1_cag has been classified as Green List (High Evidence).
Phenotypes for STR: ATN1_CAG were changed from Dentatorubro-pallidoluysian atrophy 125370 to Dentatorubro-pallidoluysian atrophy 125370
STR: ATN1_CAG was added STR: ATN1_CAG was added to Adult onset movement disorder. 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