Neurotransmitter disorders

Gene: SLC18A2

Green List (high evidence)

SLC18A2 (solute carrier family 18 member A2)
EnsemblGeneIds (GRCh38): ENSG00000165646
EnsemblGeneIds (GRCh37): ENSG00000165646
OMIM: 193001, Gene2Phenotype
SLC18A2 is in 6 panels

2 reviews

Louise Daugherty (Genomics England Curator)

Comment 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 phenotype
Created: 25 May 2017, 3:54 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
Phenotypes
  • Brain Dopamine Serotonin Vesicular Transport Disease (Other disorders of neurotransmitter metabolism)
  • Vesicular monoamine transporter deficiency
OMIM
193001
Clinvar variants
Variants in SLC18A2
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: 2

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

25 May 2017, Gel status: 0

Set publications

Louise Daugherty (Genomics England Curator)

Publications for SLC18A2 were set to 27604308; 23363473; 26497564; 28477711; 24398404; 24018103; 27520881; 27830117

25 May 2017, Gel status: 0

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for SLC18A2 were set to Brain Dopamine Serotonin Vesicular Transport Disease (Other disorders of neurotransmitter metabolism); Vesicular monoamine transporter deficiency

25 May 2017, Gel status: 0

Set publications

Louise Daugherty (Genomics England Curator)

Publications for SLC18A2 were set to 27604308; 23363473; 26497564; 28477711; 24398404; 24018103;27520881

25 May 2017, Gel status: 0

Set publications

Louise Daugherty (Genomics England Curator)

Publications for SLC18A2 were set to 27604308; 23363473; 26497564; 28477711;24398404;24018103

25 May 2017, Gel status: 0

Set publications

Louise Daugherty (Genomics England Curator)

Publications for SLC18A2 were set to 27604308; 23363473; 26497564;

25 May 2017, Gel status: 0

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for SLC18A2 were set to Brain Dopamine Serotonin Vesicular Transport Disease (Other disorders of neurotransmitter metabolism)

1 Mar 2017, Gel status: 0

Created

Manju Kurian (UCL-Institute of Child Health)

SLC18A2 was created by Manju

1 Mar 2017, Gel status: 0

Added New Source

Manju Kurian (UCL-Institute of Child Health)

SLC18A2 was added to Neurotransmitter disorderspanel. Sources: Literature