Paroxysmal central nervous system disorders
Gene: SLC6A4
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
Insufficient evidence; not paroxysmal?Created: 2 Sep 2019, 1:30 p.m. | Last Modified: 2 Sep 2019, 1:30 p.m.
Panel Version: 0.22
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
{Anxiety-related personality traits} 607834; {Obsessive-compulsive disorder} 164230
Gene: slc6a4 has been classified as Red List (Low Evidence).
Source NHS GMS was added to SLC6A4.
Source London North GLH was added to SLC6A4.
Source Wessex and West Midlands GLH was added to SLC6A4.
Added phenotypes SLC6A4-Related Behavior Disorders; {Anxiety-related personality traits} 607834; {Obsessive-compulsive disorder} for gene: SLC6A4
gene: SLC6A4 was added gene: SLC6A4 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Red Mode of inheritance for gene: SLC6A4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SLC6A4 were set to 17101915; 16642437; 15642926 Phenotypes for gene: SLC6A4 were set to SLC6A4-Related Behavior Disorders; {Anxiety-related personality traits} 607834; {Obsessive-compulsive disorder} Mode of pathogenicity for gene: SLC6A4 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments