Structural basal ganglia disorders
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: 1.30
Comment on list classification: Removed STR from Panel. This STR was not listed on the recent GMC STRs document supplied by Arianna Tucci.Created: 5 Dec 2018, 7:27 p.m.
The normal number of repeats was changed from 26 to 36.Created: 6 Jun 2018, 1:53 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Huntington disease 143100
Publications
Variants in this STR are reported as part of current diagnostic practice
Normal Number of Repeats for HTT_CAG was changed from 40 to 36. Source NHS GMS was added to STR: HTT_CAG.
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.
Normal Number of Repeats for HTT_CAG was changed from 36 to 40. Pathogenic Number of Repeats for HTT_CAG was changed from 36 to 40.
Normal Number of Repeats for HTT_CAG was changed from 26 to 36. Panel: Structural basal ganglia disorders
STR was added to STR: HTT_CAG. Panel: Structural basal ganglia disorders
STR: HTT_CAG was added to Structural basal ganglia disorders panel. Sources: Expert list
STR: HTT_CAG was created by Ellen McDonagh