Neurotransmitter disorders
Gene: SLC6A3EnsemblGeneIds (GRCh38): ENSG00000142319
EnsemblGeneIds (GRCh37): ENSG00000142319
OMIM: 126455, Gene2Phenotype
SLC6A3 is in 11 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, INFANTILECreated: 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)
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
-
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Neurotransmitter disorders
- Parkinson Disease and Complex Parkinsonism
- Adult onset dystonia, chorea or related movement disorder
- Early onset dystonia
- DDG2P
- Intellectual disability
- Fetal anomalies
- Undiagnosed metabolic disorders
- Adult onset neurodegenerative disorder
History Filter Activity
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.
Gene classified by Genomics England curator
Louise Daugherty (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Upload gene information
Louise Daugherty (Genomics England Curator)SLC6A3 was added to Neurotransmitter disorderspanel. Sources: Radboud University Medical Center, Nijmegen
Set publications
Louise Daugherty (Genomics England Curator)Publications for SLC6A3 were set to 27830117;21112253
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for SLC6A3 were set to Parkinsonism-dystonia, infantile, 613135; Dopamine transporter deficiency
Created
Manju Kurian (UCL-Institute of Child Health)SLC6A3 was created by Manju
Added New Source
Manju Kurian (UCL-Institute of Child Health)SLC6A3 was added to Neurotransmitter disorderspanel. Sources: Literature