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| Hereditary ataxia with onset in adulthood v2.148 | ISCA-37478-Gain | Eleanor Williams commented on Region: ISCA-37478-Gain | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v2.148 | ISCA-37478-Gain |
Arina Puzriakova GRCh38 position for ISCA-37478-Gain was changed from 23513243-28312040 to 23465365-28134728. Required Overlap Percentage for ISCA-37478-Gain was changed from 80 to 60. |
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| Hereditary ataxia with onset in adulthood v1.194 | ISCA-37478-Gain | Louise Daugherty commented on Region: ISCA-37478-Gain: Discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this CNV Green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v1.155 | ISCA-37478-Gain |
Louise Daugherty commented on Region: ISCA-37478-Gain: This panel was initially created as a merge of genomic entities form the following Rare Disease 100K two panels : Hereditary ataxia v1.148 and Brain channelopathy v1.46. This region (rated Green) comes from the Hereditary ataxia v1.148 panel and will need to discussed by the Neurology Test Group in July 2019. |
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| Hereditary ataxia with onset in adulthood v1.6 | ISCA-37478-Gain | Louise Daugherty reviewed Region: ISCA-37478-Gain: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: 15q duplication syndrome; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v1.6 | ISCA-37478-Gain | Louise Daugherty Source NHS GMS was added to Region: ISCA-37478-Gain. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v1.5 | ISCA-37478-Gain |
Louise Daugherty Source Wessex and West Midlands GLH was added to Region: ISCA-37478-Gain. Publications for Region: ISCA-37478-Gain were changed from 18374305; 9106540; 16840569 to 16840569; 18374305; 9106540 |
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| Hereditary ataxia with onset in adulthood v0.2 | ISCA-37478-Gain |
Eleanor Williams Region: ISCA-37478-Gain was added Region: ISCA-37478-Gain was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for Region: ISCA-37478-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for Region: ISCA-37478-Gain were set to 18374305; 9106540; 16840569 Phenotypes for Region: ISCA-37478-Gain were set to autism, mental retardation, ataxia, seizures, developmental delays, and behavioral problems; hypotonia and motor delays, intellectual disability, autism spectrum disorder (ASD), and epilepsy including infantile spasms, 608636; chromosome 15q11-q13 duplication syndrome |
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