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Early onset dystonia v1.111 JPH3_CTG Sarah Leigh commented on STR: JPH3_CTG
Early onset dystonia v1.111 JPH3_CTG Arina Puzriakova Classified STR: JPH3_CTG as Green List (high evidence)
Early onset dystonia v1.111 JPH3_CTG Arina Puzriakova Str: jph3_ctg has been classified as Green List (High Evidence).
Early onset dystonia v1.106 JPH3_CTG Arina Puzriakova 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)
Early onset dystonia v1.96 JPH3_CTG Arina Puzriakova Phenotypes for STR: JPH3_CTG were changed from Huntington disease-like 2 606438 to Huntington disease-like 2, OMIM:606438
Early onset dystonia v1.65 JPH3_CTG Arianna Tucci Phenotypes for STR: JPH3_CTG were changed from to Huntington disease-like 2 606438
Early onset dystonia v1.62 JPH3_CTG Arianna Tucci Repeated Sequence for JPH3_CTG was changed from CAG to CTG.
Early onset dystonia v1.61 JPH3_CTG Louise Daugherty Repeated Sequence for JPH3_CTG was changed from CTG to CAG.
Early onset dystonia v1.60 JPH3_CTG Louise Daugherty Deleted their comment
Early onset dystonia v1.60 JPH3_CTG Louise Daugherty commented on STR: JPH3_CTG
Early onset dystonia v1.60 JPH3_CTG Louise Daugherty Repeated Sequence for JPH3_CTG was changed from CAG to CTG.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Early onset dystonia v1.59 JPH3_CTG Louise Daugherty Tag STR tag was added to STR: JPH3_CTG.
Early onset dystonia v1.51 JPH3_CTG Arianna Tucci Marked STR: JPH3_CTG as ready
Early onset dystonia v1.51 JPH3_CTG Arianna Tucci Added comment: Comment when marking as ready: Added to the panel following the Webex discussion with GMC experts (6/09/2018) about feeding back STR results
Early onset dystonia v1.51 JPH3_CTG Arianna Tucci Str: jph3_ctg has been classified as Green List (High Evidence).
Early onset dystonia v1.51 JPH3_CTG Arianna Tucci Classified STR: JPH3_CTG as Green List (high evidence)
Early onset dystonia v1.51 JPH3_CTG Arianna Tucci Str: jph3_ctg has been classified as Green List (High Evidence).
Early onset dystonia v1.50 JPH3_CTG Arianna Tucci 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
Added comment: Added to the panel following the Webex discussion with GMC experts (6/09/2018) about feeding back STR results
Sources: Expert Review