Neurotransmitter disorders

Gene: SLC6A3

Green List (high evidence)

SLC6A3 (solute carrier family 6 member 3)
EnsemblGeneIds (GRCh38): ENSG00000142319
EnsemblGeneIds (GRCh37): ENSG00000142319
OMIM: 126455, Gene2Phenotype
SLC6A3 is in 13 panels

2 reviews

Louise Daugherty (Genomics England Curator)

Comment on list classification: Changed status to Green due to expert review and evidence in the literature to support the phenotype. It is a confirmed DD gene for PARKINSONISM-DYSTONIA, INFANTILE
Created: 25 May 2017, 4:57 p.m.
Comment on publications: 8 unrelated patients with dopamine transporter deficiency syndrome, Kurian et al.
Created: 25 May 2017, 4:52 p.m.

Manju Kurian (UCL-Institute of Child Health)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Parkinsonism-dystonia, infantile, 613135
  • Dopamine transporter deficiency
OMIM
126455
Clinvar variants
Variants in SLC6A3
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

25 May 2017, Gel status: 4

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

25th May 2017. Panel reviews were assessed, and panel was revised according to reviews and further curation.

25 May 2017, Gel status: 4

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

25 May 2017, Gel status: 0

Upload gene information

Louise Daugherty (Genomics England Curator)

SLC6A3 was added to Neurotransmitter disorderspanel. Sources: Radboud University Medical Center, Nijmegen

25 May 2017, Gel status: 0

Set publications

Louise Daugherty (Genomics England Curator)

Publications for SLC6A3 were set to 27830117;21112253

25 May 2017, Gel status: 0

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for SLC6A3 were set to Parkinsonism-dystonia, infantile, 613135; Dopamine transporter deficiency

1 Mar 2017, Gel status: 0

Created

Manju Kurian (UCL-Institute of Child Health)

SLC6A3 was created by Manju

1 Mar 2017, Gel status: 0

Added New Source

Manju Kurian (UCL-Institute of Child Health)

SLC6A3 was added to Neurotransmitter disorderspanel. Sources: Literature