| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Paroxysmal central nervous system disorders v0.169 | ATAD1 | Rebecca Foulger changed review comment from: Comment on list classification: Upgraded ATAD1 from Amber to Green to match Green rating of other Hyperkeplexia genes (GLRA1, GLRB, SLC6A5). A comment from Robyn Labrum (University College London Hospitals) on behalf of London North GLH for the GMS Neurology specialist test group (received via email, September 30th 2019) notes that Hyperkeplexia genes should be included on the panel if the clinicians agree.; to: Comment on list classification: Upgraded ATAD1 from Amber to Green to match Green rating of other Hyperkeplexia genes (GLRA1, GLRB, SLC6A5). A comment from Robyn Labrum (University College London Hospitals) on behalf of London North GLH for the GMS Neurology specialist test group (received via email, September 30th 2019) notes that Hyperekplexia genes should be included on the panel if the clinicians agree. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.161 | ATAD1 | Rebecca Foulger Classified gene: ATAD1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.161 | ATAD1 | Rebecca Foulger Added comment: Comment on list classification: Upgraded ATAD1 from Amber to Green to match Green rating of other Hyperkeplexia genes (GLRA1, GLRB, SLC6A5). A comment from Robyn Labrum (University College London Hospitals) on behalf of London North GLH for the GMS Neurology specialist test group (received via email, September 30th 2019) notes that Hyperkeplexia genes should be included on the panel if the clinicians agree. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.161 | ATAD1 | Rebecca Foulger Gene: atad1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.98 | ATAD1 | Rebecca Foulger commented on gene: ATAD1: 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. This rating is for a gene (ATAD1) previously added to the panel by West Midlands, Oxford and Wessex GLH. Suggested rating: Amber. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.97 | ATAD1 | Robyn Labrum reviewed gene: ATAD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.96 | ATAD1 | Rebecca Foulger commented on gene: ATAD1: Review and rating from Penny Clouston (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust) was collated (September 19th 2019) on behalf of West Midlands, Oxford and Wessex GLH for the GMS Neurology specialist test group. Re-review of a subset of genes was conducted in September 2019 to reach a rating consensus for clinical indication R66: Paroxysmal central nervous system disorders. Suggested rating: Green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.95 | ATAD1 | Penny Clouston reviewed gene: ATAD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.27 | ATAD1 | Rebecca Foulger Source NHS GMS was added to ATAD1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.23 | ATAD1 | Rebecca Foulger reviewed gene: ATAD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.22 | ATAD1 | Tracy Lester reviewed gene: ATAD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Hyperekplexia 4, 618011; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.21 | ATAD1 |
Rebecca Foulger gene: ATAD1 was added gene: ATAD1 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Wessex and West Midlands GLH,Expert Review Amber Mode of inheritance for gene: ATAD1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ATAD1 were set to Hyperekplexia 4, 618011 |
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