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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 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 v0.135 SLC6A5 Rebecca Foulger Marked gene: SLC6A5 as ready
Paroxysmal central nervous system disorders v0.135 SLC6A5 Rebecca Foulger Gene: slc6a5 has been classified as Green List (High Evidence).
Paroxysmal central nervous system disorders v0.120 SLC6A5 Rebecca Foulger changed review comment from: Comment on list classification: Kept rating of SLC6A5 as Green following Green re-reviews from both London North GLH, and West Midlands, Oxford and Wessex GLH.; to: Comment on list classification: Kept rating of SLC6A5 as Green following Green updated reviews from both London North GLH, and West Midlands, Oxford and Wessex GLH.
Paroxysmal central nervous system disorders v0.114 SLC6A5 Rebecca Foulger Classified gene: SLC6A5 as Green List (high evidence)
Paroxysmal central nervous system disorders v0.114 SLC6A5 Rebecca Foulger Added comment: Comment on list classification: Kept rating of SLC6A5 as Green following Green re-reviews from both London North GLH, and West Midlands, Oxford and Wessex GLH.
Paroxysmal central nervous system disorders v0.114 SLC6A5 Rebecca Foulger Gene: slc6a5 has been classified as Green List (High Evidence).
Paroxysmal central nervous system disorders v0.98 SLC6A5 Rebecca Foulger commented on gene: SLC6A5: 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 SLC6A5 Robyn Labrum reviewed gene: SLC6A5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.96 SLC6A5 Rebecca Foulger commented on gene: SLC6A5: 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 SLC6A5 Penny Clouston reviewed gene: SLC6A5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.27 SLC6A5 Rebecca Foulger Source NHS GMS was added to SLC6A5.
Paroxysmal central nervous system disorders v0.26 SLC6A5 Rebecca Foulger commented on gene: SLC6A5: 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 SLC6A5 James Polke reviewed gene: SLC6A5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.24 SLC6A5 Rebecca Foulger Source London North GLH was added to SLC6A5.
Paroxysmal central nervous system disorders v0.23 SLC6A5 Rebecca Foulger reviewed gene: SLC6A5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.22 SLC6A5 Tracy Lester reviewed gene: SLC6A5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Hyperekplexia 3, 614618; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Paroxysmal central nervous system disorders v0.21 SLC6A5 Rebecca Foulger Source Wessex and West Midlands GLH was added to SLC6A5.
Paroxysmal central nervous system disorders v0.5 SLC6A5 Louise Daugherty Phenotypes for gene: SLC6A5 were changed from 614618 HYPEREKPLEXIA 3 to Hyperekplexia 3, 614618
Paroxysmal central nervous system disorders v0.3 SLC6A5 Ellen McDonagh Added phenotypes 614618 HYPEREKPLEXIA 3 for gene: SLC6A5
Paroxysmal central nervous system disorders v0.2 SLC6A5 Ellen McDonagh gene: SLC6A5 was added
gene: SLC6A5 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green
Mode of inheritance for gene: SLC6A5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SLC6A5 were set to 16751771
Phenotypes for gene: SLC6A5 were set to 614618 HYPEREKPLEXIA 3