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| Childhood onset dystonia, chorea or related movement disorder v1.217 | ATXN2_CAG | Ivone Leong commented on STR: ATXN2_CAG | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset dystonia, chorea or related movement disorder v1.213 | 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. |
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| Childhood onset dystonia, chorea or related movement disorder v1.173 | 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset dystonia, chorea or related movement disorder v1.53 | ATXN2_CAG | Arina Puzriakova Classified STR: ATXN2_CAG as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset dystonia, chorea or related movement disorder v1.53 | ATXN2_CAG | Arina Puzriakova Str: atxn2_cag has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset dystonia, chorea or related movement disorder v1.52 | ATXN2_CAG |
Arina Puzriakova STR: ATXN2_CAG was added STR: ATXN2_CAG was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert list STR tags were added to STR: ATXN2_CAG. Mode of inheritance for STR: ATXN2_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for STR: ATXN2_CAG were set to Spinocerebellar ataxia 2, 183090 Review for STR: ATXN2_CAG was set to GREEN STR: ATXN2_CAG was marked as current diagnostic Added comment: New STR submitted and discussed with GLHs for the GMS Neurology Specialist Test Group, who agreed that there is sufficient evidence to rate this STR Green on this panel. Sources: Expert list |
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