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| Paroxysmal central nervous system disorders v0.172 | GLRA1 | Rebecca Foulger Phenotypes for gene: GLRA1 were changed from Hyperekplexia, hereditary 1, 149400 to Hyperekplexia 1, 149400 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 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 v0.124 | GLRA1 | Rebecca Foulger changed review comment from: Comment on list classification: Kept rating of GLRA1 as Green following Green recent reviews from both London North GLH, and West Midlands, Oxford and Wessex GLH.; to: Comment on list classification: Kept rating of GLRA1 as Green following Green updated reviews from both London North GLH, and West Midlands, Oxford and Wessex GLH. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.120 | GLRA1 | Rebecca Foulger changed review comment from: Comment on list classification: Kept rating of GLRA1 as Green following Green reviews from both London North GLH, and West Midlands, Oxford and Wessex GLH.; to: Comment on list classification: Kept rating of GLRA1 as Green following Green recent reviews from both London North GLH, and West Midlands, Oxford and Wessex GLH. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.110 | GLRA1 | Rebecca Foulger Classified gene: GLRA1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.110 | GLRA1 | Rebecca Foulger Added comment: Comment on list classification: Kept rating of GLRA1 as Green following Green reviews from both London North GLH, and West Midlands, Oxford and Wessex GLH. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.110 | GLRA1 | Rebecca Foulger Gene: glra1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.98 | GLRA1 | Rebecca Foulger commented on gene: GLRA1: 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. 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 v0.97 | GLRA1 | Robyn Labrum reviewed gene: GLRA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.96 | GLRA1 | Rebecca Foulger commented on gene: GLRA1: 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 | GLRA1 | Penny Clouston reviewed gene: GLRA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.27 | GLRA1 | Rebecca Foulger Source NHS GMS was added to GLRA1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.26 | GLRA1 | Rebecca Foulger commented on gene: GLRA1: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.25 | GLRA1 | James Polke reviewed gene: GLRA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.24 | GLRA1 | Rebecca Foulger Source London North GLH was added to GLRA1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.23 | GLRA1 | Rebecca Foulger reviewed gene: GLRA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.22 | GLRA1 | Tracy Lester reviewed gene: GLRA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Hyperekplexia 1, 149400; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.21 | GLRA1 | Rebecca Foulger Source Wessex and West Midlands GLH was added to GLRA1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.7 | GLRA1 | Louise Daugherty Phenotypes for gene: GLRA1 were changed from 149400 HYPEREKPLEXIA, HEREDITARY 1 to Hyperekplexia, hereditary 1, 149400 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.3 | GLRA1 | Ellen McDonagh Added phenotypes 149400 HYPEREKPLEXIA, HEREDITARY 1 for gene: GLRA1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.2 | GLRA1 |
Ellen McDonagh gene: GLRA1 was added gene: GLRA1 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green Mode of inheritance for gene: GLRA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: GLRA1 were set to 20301437 Phenotypes for gene: GLRA1 were set to 149400 HYPEREKPLEXIA, HEREDITARY 1 |
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