Paroxysmal central nervous system disorders
Gene: SLC6A5
Associated with hyperekplexia - startle response fits brief of paroxysmal disorder.Created: 23 Sep 2019, 3:56 p.m. | Last Modified: 23 Sep 2019, 3:56 p.m.
Panel Version: 0.97
Happy with green if including Hyperekplexia on this panel.Created: 23 Sep 2019, 12:51 p.m. | Last Modified: 23 Sep 2019, 12:51 p.m.
Panel Version: 0.95
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.Created: 23 Sep 2019, 4:37 p.m. | Last Modified: 24 Sep 2019, 10:24 a.m.
Panel Version: 0.120
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.Created: 23 Sep 2019, 3:57 p.m. | Last Modified: 23 Sep 2019, 3:57 p.m.
Panel Version: 0.98
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.Created: 23 Sep 2019, 12:53 p.m. | Last Modified: 23 Sep 2019, 12:53 p.m.
Panel Version: 0.96
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.Created: 2 Sep 2019, 2:39 p.m. | Last Modified: 2 Sep 2019, 2:39 p.m.
Panel Version: 0.26
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust) was collated (February 2019) on behalf of West Midlands, Oxford and Wessex GLH for the GMS Neurology specialist test group.Created: 2 Sep 2019, 1:39 p.m. | Last Modified: 2 Sep 2019, 1:39 p.m.
Panel Version: 0.23
Hyperekplexia, include?Created: 2 Sep 2019, 1:30 p.m. | Last Modified: 2 Sep 2019, 1:30 p.m.
Panel Version: 0.22
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Hyperekplexia 3, 614618
Gene: slc6a5 has been classified as Green List (High Evidence).
Gene: slc6a5 has been classified as Green List (High Evidence).
Source NHS GMS was added to SLC6A5.
Source London North GLH was added to SLC6A5.
Source Wessex and West Midlands GLH was added to SLC6A5.
Phenotypes for gene: SLC6A5 were changed from 614618 HYPEREKPLEXIA 3 to Hyperekplexia 3, 614618
Added phenotypes 614618 HYPEREKPLEXIA 3 for gene: SLC6A5
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