Parkinson Disease and Complex Parkinsonism
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: 1.105
Threshold changes to 40 repeats following the Webex discussion with HD experts (6/09/2018) about feeding back HTT resultsCreated: 4 Dec 2018, 2:35 p.m.
Comment on list classification: changed to green as diagnostic for HDCreated: 5 Jun 2018, 10:56 a.m.
The normal number of repeats was changed from 26 to 36.Created: 6 Jun 2018, 1:54 p.m.
Penetrance: >=36-39 (reduced prenetrance); >40 fully penetrantCreated: 1 Jun 2018, 8:48 a.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
Tag anticipation was removed from STR: HTT_CAG.
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
Str: htt_cag has been classified as Green List (High Evidence).
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: Parkinson Disease and Complex Parkinsonism
Str: htt_cag has been classified as Green List (High Evidence).
STR was added to STR: HTT_CAG. Panel: Parkinson Disease and Complex Parkinsonism
STR: HTT_CAG was added to Parkinson Disease and Complex Parkinsonism panel. Sources: Expert list
STR: HTT_CAG was created by Ellen McDonagh