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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) |
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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 |