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Kleine-Levin syndrome

Gene: SLC6A4

Red List (low evidence)
SLC6A4 (solute carrier family 6 member 4)
EnsemblGeneIds (GRCh38): ENSG00000108576
EnsemblGeneIds (GRCh37): ENSG00000108576
OMIM: 182138, Gene2Phenotype
SLC6A4 is in 4 panels

1 review

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM, not in G2P / DD. At least two variants reported one in OCD and the other in Anxiety-related personality traits
Created: 5 Jan 2017, 1:39 p.m.
Comment on mode of pathogenicity: Gain of function variants associated with obsessive-compulsive disorder
Created: 5 Jan 2017, 1:38 p.m.
Created: 5 Jan 2017, 1:38 p.m.

Panel version: 0.35

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • SLC6A4-Related Behavior Disorders
  • {Anxiety-related personality traits} 607834
  • {Obsessive-compulsive disorder} 164230
OMIM
182138
Clinvar variants
Variants in SLC6A4
Penetrance
Complete
Publications
Mode of Pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Panels with this gene

History Filter Activity

1 Feb 2017, Gel status: 1

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Rosa Peraita-Adrados (Sleep and Epilepsy Unit-Clinical Neurophysiology Service. Gregorio Maranon University Hospital. Complutense University of Madrid (UCM).Madrid.Spain.), agrees with the status of the gene on this panel, although she has not reviewed every gene individually

5 Jan 2017, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

5 Jan 2017, Gel status: 1

Set mode of pathogenicity

Sarah Leigh (Genomics England Curator)

Mode of pathogenicity for SLC6A4 was changed to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

5 Jan 2017, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for SLC6A4 were set to 16642437; 15642926; 17101915

5 Jan 2017, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for SLC6A4 were set to SLC6A4-Related Behavior Disorders; {Anxiety-related personality traits} 607834; {Obsessive-compulsive disorder} 164230

5 Jan 2017, Gel status: 1

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for SLC6A4 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

20 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

SLC6A4 was added to Kleine-Levin Syndrome (KLS) and other inherited sleep disorders panel. Sources: Illumina TruGenome Clinical Sequencing Services