Adult onset dystonia, chorea or related movement disorder
STR: JPH3_CTGSTR repeat lengths have been reviewed and confirmed by the NHS Genomic Medicine Service.Created: 15 Mar 2022, 1:10 p.m. | Last Modified: 15 Mar 2022, 1:10 p.m.
Panel Version: 1.166
Discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this STR GreenCreated: 5 Aug 2019, 3:27 p.m. | Last Modified: 5 Aug 2019, 3:27 p.m.
Panel Version: 0.95
STR rating submitted by James Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group. Comment : STRCreated: 23 Apr 2019, 1:33 p.m.
Source PanelApp panels : Early onset dystonia v1.76, Parkinson Disease and Complex Parkinsonism v1.6
Sources: Expert listCreated: 11 Jan 2019, 3:27 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Huntington disease-like 2 606438
Pathogenic Number of Repeats for JPH3_CTG was changed from 41 to 40.
Phenotypes for STR: JPH3_CTG were changed from Huntington disease-like 2 606438 to Huntington disease-like 2, OMIM:606438
Source NHS GMS was added to STR: JPH3_CTG.
Source London North GLH was added to STR: JPH3_CTG. Rating Changed from Green List (high evidence) to Green List (high evidence)
Str: jph3_ctg has been classified as Green List (High Evidence).
STR: JPH3_CTG was added STR: JPH3_CTG was added to Adult onset movement disorder. 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