Early onset dystonia
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: 1.111
Comment when marking as ready: Added to the panel following the Webex discussion with GMC experts (6/09/2018) about feeding back STR resultsCreated: 4 Dec 2018, 2:53 p.m.
Added to the panel following the Webex discussion with GMC experts (6/09/2018) about feeding back STR results
Sources: Expert ReviewCreated: 4 Dec 2018, 2:52 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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
Phenotypes for STR: JPH3_CTG were changed from to Huntington disease-like 2 606438
Repeated Sequence for JPH3_CTG was changed from CAG to CTG.
Repeated Sequence for JPH3_CTG was changed from CTG to CAG.
Repeated Sequence for JPH3_CTG was changed from CAG to CTG. Rating Changed from Green List (high evidence) to Green List (high evidence)
Tag STR tag was added to STR: JPH3_CTG.
Str: jph3_ctg has been classified as 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 Early onset dystonia. Sources: Expert Review Mode of inheritance for STR: JPH3_CTG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Review for STR: JPH3_CTG was set to GREEN