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Hereditary ataxia v1.298 ATXN10_ATTCT Ivone Leong commented on STR: ATXN10_ATTCT
Hereditary ataxia v1.298 ATXN1_CAG Ivone Leong commented on STR: ATXN1_CAG
Hereditary ataxia v1.288 ATXN10_ATTCT Arina Puzriakova Classified STR: ATXN10_ATTCT as Green List (high evidence)
Hereditary ataxia v1.288 ATXN10_ATTCT Arina Puzriakova Str: atxn10_attct has been classified as Green List (High Evidence).
Hereditary ataxia v1.287 ATXN1_CAG Arina Puzriakova Classified STR: ATXN1_CAG as Green List (high evidence)
Hereditary ataxia v1.287 ATXN1_CAG Arina Puzriakova Str: atxn1_cag has been classified as Green List (High Evidence).
Hereditary ataxia v1.283 ATXN10_ATTCT Arina Puzriakova Normal Number of Repeats for ATXN10_ATTCT was changed from 32 to 33.
Source NHS GMS was added to STR: ATXN10_ATTCT.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Hereditary ataxia v1.283 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)
Hereditary ataxia v1.268 ATXN1 Arina Puzriakova Added comment: Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanism
Hereditary ataxia v1.268 ATXN1 Arina Puzriakova Mode of inheritance for gene: ATXN1 was changed from to Other
Hereditary ataxia v1.267 ATXN1 Arina Puzriakova Phenotypes for gene: ATXN1 were changed from Spinocerebellarataxia1,164400 to Spinocerebellar ataxia 1, OMIM:164400
Hereditary ataxia v1.266 ATXN1_CAG Arina Puzriakova Phenotypes for STR: ATXN1_CAG were changed from Spinocerebellar ataxia 1 164400 to Spinocerebellar ataxia 1, OMIM:164400
Hereditary ataxia v1.251 ATXN10_ATTCT Arina Puzriakova Phenotypes for STR: ATXN10_ATTCT were changed from Spinocerebellar ataxia 10 603516 to Spinocerebellar ataxia 10, OMIM:603516
Hereditary ataxia v1.250 ATXN10 Arina Puzriakova Tag watchlist was removed from gene: ATXN10.
Hereditary ataxia v1.250 ATXN10 Arina Puzriakova Mode of inheritance for gene: ATXN10 was changed from to Other
Hereditary ataxia v1.249 ATXN10 Arina Puzriakova Phenotypes for gene: ATXN10 were changed from Spinocerebellarataxia10,603516 to Spinocerebellar ataxia 10, OMIM:603516
Hereditary ataxia v1.148 ATXN10_ATTCT Louise Daugherty Phenotypes for STR: ATXN10_ATTCT were changed from Spinocerebellar ataxia 603516 to Spinocerebellar ataxia 10 603516
Hereditary ataxia v1.147 ATXN10_ATTCT Louise Daugherty Phenotypes for STR: ATXN10_ATTCT were changed from Spinocerebellar ataxia , 603516 to Spinocerebellar ataxia 603516
Hereditary ataxia v1.139 ATXN10_ATTCT Arianna Tucci Marked STR: ATXN10_ATTCT as ready
Hereditary ataxia v1.139 ATXN10_ATTCT Arianna Tucci Str: atxn10_attct has been classified as Green List (High Evidence).
Hereditary ataxia v1.139 ATXN10_ATTCT Arianna Tucci Classified STR: ATXN10_ATTCT as Green List (high evidence)
Hereditary ataxia v1.139 ATXN10_ATTCT Arianna Tucci Str: atxn10_attct has been classified as Green List (High Evidence).
Hereditary ataxia v1.135 ATXN1_CAG Arianna Tucci Marked STR: ATXN1_CAG as ready
Hereditary ataxia v1.135 ATXN1_CAG Arianna Tucci Str: atxn1_cag has been classified as Green List (High Evidence).
Hereditary ataxia v1.135 ATXN1_CAG Arianna Tucci Classified STR: ATXN1_CAG as Green List (high evidence)
Hereditary ataxia v1.135 ATXN1_CAG Arianna Tucci Str: atxn1_cag has been classified as Green List (High Evidence).
Hereditary ataxia v1.134 ATXN1_CAG Arianna Tucci Pathogenic Number of Repeats for ATXN1_CAG was changed from 39 to 44.
Hereditary ataxia ATXN1 Ellen McDonagh Added STR to panel
Hereditary ataxia ATXN10 Sarah Leigh reviewed ATXN10
Hereditary ataxia ATXN10 Alice Gardham commented on ATXN10