Hereditary spastic paraplegia - childhood onsetSTR: ATXN7_CAG
childhood onset typically presents with a rapidly progressive disease consisting of neonatal hypotonia, developmental delay, dysphagia, congestive heart failure, cerebral and cerebellar atrophy, and retinal disease
Created: 26 Feb 2019, 11:15 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, 11:35 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, 2:02 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Spinocerebellar ataxia 7 164500
Phenotypes for STR: ATXN7_CAG were changed from Spinocerebellar ataxia 7 164500 to Spinocerebellar ataxia 7, OMIM:164500
Str: atxn7_cag has been classified as Amber List (Moderate Evidence).
Louise Daugherty: Source PanelApp panels : Hered
Str: atxn7_cag has been classified as Green List (High Evidence).
STR: ATXN7_CAG was added STR: ATXN7_CAG was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert list STR tags were added to STR: ATXN7_CAG. Mode of inheritance for STR: ATXN7_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for STR: ATXN7_CAG were set to Spinocerebellar ataxia 7 164500 Review for STR: ATXN7_CAG was set to GREEN