Adult onset dystonia, chorea or related movement disorder
STR: HTT_CAGSTR repeat lengths have been reviewed and confirmed by the NHS Genomic Medicine Service.Created: 15 Mar 2022, 4:02 p.m. | Last Modified: 15 Mar 2022, 4:02 p.m.
Panel Version: 1.166
Comment on list classification: This STR has been removed at the request of GHLs for the GMS Neurology Specialist Test Group as it is available as a core test for R68 Huntington Disease. Inclusion on panels for other neurological CIs raises concerns regarding counselling, and so it has been agreed that HTT_CAG will be excluded from this panel.Created: 6 Oct 2020, 10:32 a.m. | Last Modified: 6 Oct 2020, 10:32 a.m.
Panel Version: 1.12
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, 3:26 p.m. | Last Modified: 5 Aug 2019, 3:26 p.m.
Panel Version: 0.95
STR rating submitted by James Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group. Comment : STRCreated: 23 Apr 2019, 1:32 p.m.
Source PanelApp panels : Parkinson Disease and Complex Parkinsonism v1.64
Sources: Expert listCreated: 11 Jan 2019, 3:19 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Huntington disease 143100
Publications
Normal Number of Repeats for HTT_CAG was changed from 40 to 36.
Phenotypes for STR: HTT_CAG were changed from Huntington disease 143100 to Huntington disease, OMIM:143100
Tag curated_removed tag was added to STR: HTT_CAG.
Str: htt_cag has been removed from the panel.
Source NHS GMS was added to STR: HTT_CAG.
Source London North GLH was added to STR: HTT_CAG. Rating Changed from Green List (high evidence) to Green List (high evidence)
Str: htt_cag has been classified as Green List (High Evidence).
STR: HTT_CAG was added STR: HTT_CAG was added to Adult onset movement disorder. Sources: Expert list STR tags were added to STR: HTT_CAG. Mode of inheritance for STR: HTT_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for STR: HTT_CAG were set to 24256063 Phenotypes for STR: HTT_CAG were set to Huntington disease 143100 Review for STR: HTT_CAG was set to GREEN