Ataxia and cerebellar anomalies - narrow panel
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: 2.288
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, 10:13 a.m. | Last Modified: 6 Oct 2020, 10:13 a.m.
Panel Version: 2.14
Source PanelApp panels : Hereditary ataxia v1.150
Sources: Expert listCreated: 21 Dec 2018, 4:37 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Huntington disease 143100
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.
Louise Daugherty: Source PanelApp panels : Hered
Str: htt_cag has been classified as Green List (High Evidence).
STR: HTT_CAG was added STR: HTT_CAG was added to Ataxia and cerebellar anomalies - narrow panel. 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 Phenotypes for STR: HTT_CAG were set to Huntington disease 143100 Review for STR: HTT_CAG was set to GREEN