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Hereditary spastic paraplegia v1.289 | ATXN2_CAG | Ivone Leong commented on STR: ATXN2_CAG | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary spastic paraplegia v1.282 | ATXN2_CAG | Arina Puzriakova Classified STR: ATXN2_CAG as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary spastic paraplegia v1.282 | ATXN2_CAG | Arina Puzriakova Str: atxn2_cag has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary spastic paraplegia v1.277 | 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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Hereditary spastic paraplegia v1.261 | 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary spastic paraplegia v1.107 | ATXN2_CAG | Louise Daugherty Phenotypes for STR: ATXN2_CAG were changed from Spinocerebellar ataxia 2 183090 to Spinocerebellar ataxia 2 183090 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary spastic paraplegia v1.98 | ATXN2_CAG | Arianna Tucci Phenotypes for STR: ATXN2_CAG were changed from to Spinocerebellar ataxia 2 183090 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary spastic paraplegia v1.95 | ATXN2_CAG | Louise Daugherty Tag STR tag was added to STR: ATXN2_CAG. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary spastic paraplegia v1.83 | ATXN2_CAG | Arianna Tucci Classified STR: ATXN2_CAG as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary spastic paraplegia v1.83 | ATXN2_CAG | Arianna Tucci Str: atxn2_cag has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary spastic paraplegia v1.82 | ATXN2_CAG |
Arianna Tucci STR: ATXN2_CAG was added STR: ATXN2_CAG was added to Hereditary spastic paraplegia. Sources: Expert Review Mode of inheritance for STR: ATXN2_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added comment: Added to the panel following the Webex discussion with experts from the GMCs (6/09/2018) about feeding back STR results Sources: Expert Review |