Hereditary spastic paraplegia - adult onsetSTR: HTT_CAG
Comment on list classification: STR reviewed and discussed at the GMS Neurology Specialist Test Group Webex on 17th May Agreed to change the rating from Green to Amber. Further comment: risk element- needs further discussion from data analysis from 100K Genomes Project.
Created: 22 May 2019, 12:04 p.m.
Green rating and review from Chris Buxton (North Bristol NHS Trust), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group. Comment: str (Variants in this STR are reported as part of current diagnostic practice)
Created: 26 Apr 2019, 1:10 p.m.
Green rating for STR submitted on behalf of James Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group
Sources: Expert list
Created: 26 Apr 2019, 12:27 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Huntington disease 143100
Str: htt_cag has been classified as Amber List (Moderate Evidence).
Source NHS GMS was added to STR: HTT_CAG.
Source South West GLH was added to STR: HTT_CAG.
Source London North GLH was added to STR: HTT_CAG.
Source Expert Review Green was added to STR: HTT_CAG. Rating Changed from Red List (low evidence) to Green List (high evidence)
STR: HTT_CAG was added STR: HTT_CAG was added to Hereditary spastic paraplegia - adult onset. 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