Hereditary ataxia
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: 1.298
Comment when marking as ready: Added to the panel following the Webex discussion with HD experts (6/09/2018) about feeding back HTT resultsCreated: 4 Dec 2018, 2:43 p.m.
Str: htt_cag has been classified as Green List (High Evidence).
Normal Number of Repeats for HTT_CAG was changed from 40 to 36. Source NHS GMS was added to STR: HTT_CAG. Rating Changed from Green List (high evidence) to Red List (low evidence)
Phenotypes for STR: HTT_CAG were changed from Huntington disease 143100 to Huntington disease, OMIM:143100
Phenotypes for STR: HTT_CAG were changed from to Huntington disease 143100
Str: htt_cag has been classified as Green List (High Evidence).
Tag STR tag was added to STR: HTT_CAG.
Str: htt_cag has been classified as 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 Hereditary ataxia. Sources: Expert Review Mode of inheritance for STR: HTT_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted STR: HTT_CAG was marked as current diagnostic