Neurotransmitter disordersGene: SLC6A3
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.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
25th May 2017. Panel reviews were assessed, and panel was revised according to reviews and further curation.
This gene has been classified as Green List (High Evidence).
SLC6A3 was added to Neurotransmitter disorderspanel. Sources: Radboud University Medical Center, Nijmegen
Publications for SLC6A3 were set to 27830117;21112253
Phenotypes for SLC6A3 were set to Parkinsonism-dystonia, infantile, 613135; Dopamine transporter deficiency
SLC6A3 was created by Manju
SLC6A3 was added to Neurotransmitter disorderspanel. Sources: Literature