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| Adult onset hereditary spastic paraplegia v3.14 | ATXN10_ATTCT | Eleanor Williams commented on STR: ATXN10_ATTCT | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v3.14 | ATXN10_ATTCT | Eleanor Williams Classified STR: ATXN10_ATTCT as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v3.14 | ATXN10_ATTCT | Eleanor Williams Str: atxn10_attct has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v3.13 | ATXN10_ATTCT |
Eleanor Williams Tag watchlist was removed from STR: ATXN10_ATTCT. Tag Q3_23_promote_green was removed from STR: ATXN10_ATTCT. |
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| Adult onset hereditary spastic paraplegia v3.10 | ATXN10_ATTCT | Sarah Leigh Tag Q3_23_promote_green tag was added to STR: ATXN10_ATTCT. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v3.10 | ATXN10_ATTCT | Sarah Leigh reviewed STR: ATXN10_ATTCT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v1.102 | ATXN10_ATTCT | Eleanor Williams Tag for-review was removed from STR: ATXN10_ATTCT. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v1.95 | ATXN10_ATTCT | Ivone Leong commented on STR: ATXN10_ATTCT | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v1.91 | ATXN10_ATTCT | Arina Puzriakova Normal Number of Repeats for ATXN10_ATTCT was changed from 32 to 33. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v1.74 | ATXN10_ATTCT | Arina Puzriakova Phenotypes for STR: ATXN10_ATTCT were changed from Spinocerebellar ataxia 10 603516 to Spinocerebellar ataxia 10, OMIM:603516 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v1.73 | ATXN10_ATTCT | Arina Puzriakova Tag watchlist tag was added to STR: ATXN10_ATTCT. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v1.12 | ATXN10_ATTCT | Arina Puzriakova Tag for-review tag was added to STR: ATXN10_ATTCT. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v1.9 | ATXN10_ATTCT | Arina Puzriakova Classified STR: ATXN10_ATTCT as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v1.9 | ATXN10_ATTCT | Arina Puzriakova Added comment: Comment on list classification: This STR has been temporarily downgraded from Green to Amber, and will be repromoted when this clinical indication moves to WGS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v1.9 | ATXN10_ATTCT | Arina Puzriakova Str: atxn10_attct has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v0.151 | ATXN10_ATTCT | Louise Daugherty edited their review of STR: ATXN10_ATTCT: Added comment: STR reviewed and discussed at the GMS Neurology Specialist Test Group Webex on 17th May 2019, agreed to leave rating as Green.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v0.25 | ATXN10_ATTCT | Louise Daugherty edited their review of STR: ATXN10_ATTCT: Added comment: Amber rating and review from Chris Buxton (North Bristol NHS Trust), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group. Comment: str. I'm not convinved NGS (illumina) has diagnostic utility to call an expansion > 800ATTCT repeats?; Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v0.25 | ATXN10_ATTCT | Louise Daugherty Source NHS GMS was added to STR: ATXN10_ATTCT. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v0.24 | ATXN10_ATTCT | Louise Daugherty Source South West GLH was added to STR: ATXN10_ATTCT. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v0.23 | ATXN10_ATTCT | Louise Daugherty Source London North GLH was added to STR: ATXN10_ATTCT. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v0.13 | ATXN10_ATTCT |
Louise Daugherty Source Expert Review Green was added to STR: ATXN10_ATTCT. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Adult onset hereditary spastic paraplegia v0.12 | ATXN10_ATTCT |
Louise Daugherty STR: ATXN10_ATTCT was added STR: ATXN10_ATTCT was added to Hereditary spastic paraplegia - adult onset. Sources: Expert list STR tags were added to STR: ATXN10_ATTCT. Mode of inheritance for STR: ATXN10_ATTCT was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for STR: ATXN10_ATTCT were set to Spinocerebellar ataxia 10 603516 Review for STR: ATXN10_ATTCT was set to GREEN Added comment: Green rating for STR submitted on behalf of James Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group Sources: Expert list |
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