Parkinson Disease and Complex Parkinsonism
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: 1.105
Comment when marking as ready: Marked as ready following the Webex discussion with GMC experts (6/09/2018) about feeding back STR resultsCreated: 4 Dec 2018, 2:49 p.m.
Normal Number of Repeats was changed from 28 to 29.Created: 6 Jun 2018, 1:58 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Huntington disease-like 2 606438
Variants in this STR are reported as part of current diagnostic practice
Str: jph3_ctg has been classified as Green List (High Evidence).
Pathogenic Number of Repeats for JPH3_CTG was changed from 41 to 40. Source NHS GMS was added to STR: JPH3_CTG. Rating Changed from Green List (high evidence) to Red List (low evidence)
Phenotypes for STR: JPH3_CTG were changed from Huntington disease-like 2 606438 to Huntington disease-like 2, OMIM:606438
Str: jph3_ctg has been classified as Green List (High Evidence).
Str: jph3_ctg has been classified as Red List (Low Evidence).
Normal Number of Repeats for JPH3_CTG was changed from 28 to 29. Panel: Parkinson Disease and Complex Parkinsonism
STR was added to STR: JPH3_CTG. Panel: Parkinson Disease and Complex Parkinsonism
STR: JPH3_CTG was added to Parkinson Disease and Complex Parkinsonism panel. Sources: Expert list
STR: JPH3_CTG was created by Ellen McDonagh