Hereditary spastic paraplegia - childhood onsetSTR: ATXN3_CAG
Onset typically in the 3rd or 4th decade, but childhood onset has been described
Created: 26 Feb 2019, 11:11 a.m.
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.
Created: 22 May 2019, 11:34 a.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.
Created: 28 Apr 2019, 4:21 p.m.
Source PanelApp panels : Hereditary spastic paraplegia Version 1.141
Sources: Expert list
Created: 21 Dec 2018, 1:56 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Machado-Joseph disease 109150
Str: atxn3_cag has been classified as Amber List (Moderate Evidence).
Louise Daugherty: Source PanelApp panels : Hered
Str: atxn3_cag has been classified as Green List (High Evidence).
STR: ATXN3_CAG was added STR: ATXN3_CAG was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert list STR tags were added to STR: ATXN3_CAG. Mode of inheritance for STR: ATXN3_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for STR: ATXN3_CAG were set to Machado-Joseph disease 109150 Review for STR: ATXN3_CAG was set to GREEN