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Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.76 | ATXN2_CAG | Ivone Leong commented on STR: ATXN2_CAG | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.71 | ATXN2_CAG | Arina Puzriakova Classified STR: ATXN2_CAG as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.71 | ATXN2_CAG | Arina Puzriakova Str: atxn2_cag has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.65 | ATXN2_CAG |
Arina Puzriakova Normal Number of Repeats for ATXN2_CAG was changed from 31 to 32. Pathogenic Number of Repeats for ATXN2_CAG was changed from 33 to 35. Source NHS GMS was added to STR: ATXN2_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) v1.54 | ATXN2_CAG | Arina Puzriakova Phenotypes for STR: ATXN2_CAG were changed from Spinocerebellar ataxia 2 183090 to Spinocerebellar ataxia 2, OMIM:183090; {Amyotrophic lateral sclerosis, susceptibility to, 13}, OMIM:183090; {Parkinson disease, late-onset, susceptibility to}, OMIM:168600 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.45 | ATXN2_CAG | Louise Daugherty Phenotypes for STR: ATXN2_CAG were changed from Spinocerebellar ataxia 2 183090 to Spinocerebellar ataxia 2 183090 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.40 | ATXN2_CAG | Arianna Tucci Phenotypes for STR: ATXN2_CAG were changed from to Spinocerebellar ataxia 2 183090 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.34 | ATXN2_CAG | Louise Daugherty Tag STR tag was added to STR: ATXN2_CAG. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.28 | ATXN2_CAG | Arianna Tucci Marked STR: ATXN2_CAG as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.28 | ATXN2_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) v1.28 | ATXN2_CAG | Arianna Tucci Str: atxn2_cag has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.28 | ATXN2_CAG | Arianna Tucci Classified STR: ATXN2_CAG as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.28 | ATXN2_CAG | Arianna Tucci Str: atxn2_cag has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.27 | ATXN2_CAG |
Arianna Tucci STR: ATXN2_CAG was added STR: ATXN2_CAG was added to Early onset dementia (encompassing fronto-temporal dementia and prion disease). Sources: Expert Review Mode of inheritance for STR: ATXN2_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Review for STR: ATXN2_CAG was set to GREEN STR: ATXN2_CAG was marked as current diagnostic Added comment: Sources: Expert Review |