Neurotransmitter disorders
Gene: SLC18A2Comment on list classification: Status Green - only two unrelated families are indicated, but recent publications support the association to the phenotype of Vesicular monoamine transporter deficiency combined with Green status review from expert reviewer.Created: 25 May 2017, 4:39 p.m.
Comment on publications: previous gene symbol VMAT2. Only two families described with biallelic variants in SLC18A2. Early treatment with a dopamine agonist, pramipexole may lead to symptomatic improvement in affected individuals.Created: 25 May 2017, 4:11 p.m.
Comment on phenotypes: No OMIM phenotypeCreated: 25 May 2017, 3:54 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).
This gene has been classified as Amber List (Moderate Evidence).
Publications for SLC18A2 were set to 27604308; 23363473; 26497564; 28477711; 24398404; 24018103; 27520881; 27830117
Phenotypes for SLC18A2 were set to Brain Dopamine Serotonin Vesicular Transport Disease (Other disorders of neurotransmitter metabolism); Vesicular monoamine transporter deficiency
Publications for SLC18A2 were set to 27604308; 23363473; 26497564; 28477711; 24398404; 24018103;27520881
Publications for SLC18A2 were set to 27604308; 23363473; 26497564; 28477711;24398404;24018103
Publications for SLC18A2 were set to 27604308; 23363473; 26497564;
Phenotypes for SLC18A2 were set to Brain Dopamine Serotonin Vesicular Transport Disease (Other disorders of neurotransmitter metabolism)
SLC18A2 was created by Manju
SLC18A2 was added to Neurotransmitter disorderspanel. Sources: Literature