Early onset dementia (encompassing fronto-temporal dementia and prion disease)
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: 1.76
Comment on list classification: marked as green as expansions can cause progressive congitive abnormalitiesCreated: 5 Jun 2018, 3:38 p.m.
Normal Number of Repeats was changed from 28 to 29.Created: 6 Jun 2018, 1:57 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
Normal Number of Repeats for JPH3_CTG was changed from 28 to 29. Panel: Early onset dementia (encompassing fronto-temporal dementia and prion disease)
Str: jph3_ctg has been classified as Green List (High Evidence).
STR was added to STR: JPH3_CTG. Panel: Early onset dementia (encompassing fronto-temporal dementia and prion disease)
STR: JPH3_CTG was added to Early onset dementia (encompassing fronto-temporal dementia and prion disease) panel. Sources: Expert list
STR: JPH3_CTG was created by Ellen McDonagh