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| Paroxysmal central nervous system disorders v1.40 | ATN1_CAG | Ivone Leong commented on STR: ATN1_CAG | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v1.38 | ATN1_CAG |
Arina Puzriakova Normal Number of Repeats for ATN1_CAG was changed from 35 to 36. Source NHS GMS was added to STR: ATN1_CAG. |
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| Paroxysmal central nervous system disorders v1.20 | ATN1_CAG | Arina Puzriakova Phenotypes for STR: ATN1_CAG were changed from Dentatorubro-pallidoluysian atrophy 125370 to Dentatorubral-pallidoluysian atrophy, OMIM:125370 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.162 | ATN1_CAG | Rebecca Foulger Classified STR: ATN1_CAG as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.162 | ATN1_CAG | Rebecca Foulger Added comment: Comment on list classification: Demoted STR from Green to Red based on GLH review and a recent comment (September 30th 2019) from Robyn Labrum (University College London Hospitals) collated on behalf of London North GLH for the GMS Neurology specialist test group: Inappropriate phenotype. Better suited to ataxia panels, epilepsy or muscular dystrophy panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.162 | ATN1_CAG | Rebecca Foulger Str: atn1_cag has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.157 | ATN1_CAG | Rebecca Foulger commented on STR: ATN1_CAG: Review and rating from Robyn Labrum (University College London Hospitals) was collated (September 19th 2019) on behalf of London North GLH for the GMS Neurology specialist test group for clinical indication R66: Paroxysmal central nervous system disorders. Symbol submitted: ATN1_CAG. Suggested rating: ?; Comments provided: Triplet repeat. Primarily an ataxia gene. Also ataxia is not episodic/paroxysmal in nature. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.94 | ATN1_CAG | Rebecca Foulger reviewed STR: ATN1_CAG: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.9 | ATN1_CAG | Louise Daugherty Classified STR: ATN1_CAG as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.9 | ATN1_CAG | Louise Daugherty Str: atn1_cag has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.8 | ATN1_CAG |
Louise Daugherty STR: ATN1_CAG was added STR: ATN1_CAG was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert list STR tags were added to STR: ATN1_CAG. Mode of inheritance for STR: ATN1_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for STR: ATN1_CAG were set to 20301664; 8136840; 20301664; 8136840; 8136826; 7614090 Phenotypes for STR: ATN1_CAG were set to Dentatorubro-pallidoluysian atrophy 125370 Review for STR: ATN1_CAG was set to GREEN Added comment: Source PanelApp panels : Brain channelopathy v1.48 Sources: Expert list |
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