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Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.76 ATXN1_CAG Ivone Leong commented on STR: ATXN1_CAG
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.69 ATXN1_CAG Arina Puzriakova Classified STR: ATXN1_CAG as Green List (high evidence)
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.69 ATXN1_CAG Arina Puzriakova Str: atxn1_cag has been classified as Green List (High Evidence).
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.65 ATXN1_CAG Arina Puzriakova Normal Number of Repeats for ATXN1_CAG was changed from 35 to 36.
Pathogenic Number of Repeats for ATXN1_CAG was changed from 44 to 45.
Source NHS GMS was added to STR: ATXN1_CAG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.61 ATXN1_CAG Arina Puzriakova Phenotypes for STR: ATXN1_CAG were changed from Spinocerebellar ataxia 1 164400 to Spinocerebellar ataxia 1, OMIM:164400
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.44 ATXN1_CAG Louise Daugherty Phenotypes for STR: ATXN1_CAG were changed from Spinocerebellar ataxia 1 164400 to Spinocerebellar ataxia 1 164400
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.39 ATXN1_CAG Arianna Tucci Phenotypes for STR: ATXN1_CAG were changed from to Spinocerebellar ataxia 1 164400
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.34 ATXN1_CAG Louise Daugherty Tag STR tag was added to STR: ATXN1_CAG.
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.26 ATXN1_CAG Arianna Tucci Marked STR: ATXN1_CAG as ready
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.26 ATXN1_CAG Arianna Tucci Added comment: Comment when marking as ready: Marked as ready following the Webex discussion with experts from the GMCs (6/09/2018) about feeding back STR results
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.26 ATXN1_CAG Arianna Tucci Str: atxn1_cag has been classified as Green List (High Evidence).
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.26 ATXN1_CAG Arianna Tucci Classified STR: ATXN1_CAG as Green List (high evidence)
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.26 ATXN1_CAG Arianna Tucci Str: atxn1_cag has been classified as Green List (High Evidence).
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.25 ATXN1_CAG Arianna Tucci STR: ATXN1_CAG was added
STR: ATXN1_CAG was added to Early onset dementia (encompassing fronto-temporal dementia and prion disease). Sources: Expert Review
Mode of inheritance for STR: ATXN1_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Review for STR: ATXN1_CAG was set to GREEN
STR: ATXN1_CAG was marked as clinically relevant
STR: ATXN1_CAG was marked as current diagnostic
Added comment: Sources: Expert Review