Neurodegenerative disorders - adult onsetSTR: JPH3_CTG
Comment on list classification: This STR has been temporarily downgraded from Green to Amber, and will be repromoted when this clinical indication moves to WGS.
Created: 6 Oct 2020, 10:35 a.m. | Last Modified: 6 Oct 2020, 10:35 a.m.
Panel Version: 2.20
Green rating for STR submitted on behalf of Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Indicated that variants are NOT reported as part of the current diagnostic practice. Comment: Mean age of onset 35-40 years.
Created: 23 Jul 2019, 5 p.m. | Last Modified: 23 Jul 2019, 5 p.m.
Panel Version: 1.75
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: 24 Apr 2019, 2:35 p.m.
Source PanelApp panels : Parkinson Disease and Complex Parkinsonism v1.64, Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.45, Early onset dystonia v1.76.
Sources: Expert list
Created: 20 Dec 2018, 3:56 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Huntington disease-like 2 606438
Str: jph3_ctg has been classified as Amber List (Moderate Evidence).
Source Yorkshire and North East GLH was added to STR: JPH3_CTG.
Source NHS GMS was added to STR: JPH3_CTG.
Source London North GLH was added to STR: JPH3_CTG.
Louise Daugherty: Source PanelApp panels : Parki
Str: jph3_ctg has been classified as Green List (High Evidence).
STR: JPH3_CTG was added STR: JPH3_CTG was added to Neurodegenerative disorders - adult onset. Sources: Expert list STR tags were added to STR: JPH3_CTG. Mode of inheritance for STR: JPH3_CTG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for STR: JPH3_CTG were set to Huntington disease-like 2 606438 Review for STR: JPH3_CTG was set to GREEN