Brain channelopathySTR: HTT_CAG
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, 7:28 p.m.
The normal number of repeats was changed from 26 to 36.
Created: 6 Jun 2018, 1:52 p.m.
Penetrance: >=36-39 (reduced prenetrance); >40 fully penetrant
Created: 31 May 2018, 12:29 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Huntington disease 143100
Variants in this STR are reported as part of current diagnostic practice
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: Brain channelopathy
STR was added to STR: HTT_CAG. Panel: Brain channelopathy
STR: HTT_CAG was added to Brain channelopathy panel. Sources: Expert list
STR: HTT_CAG was created by Ellen McDonagh