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Neurotransmitter disorders
Gene: SLC18A2

SLC18A2 (solute carrier family 18 member A2)
EnsemblGeneIds (GRCh38): ENSG00000165646
EnsemblGeneIds (GRCh37): ENSG00000165646
OMIM: 193001, Gene2Phenotype
SLC18A2 is in 5 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.

Created: 25 May 2017, 3:54 p.m.

Panel version: 0.65

Manju Kurian (UCL-Institute of Child Health)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 1 Mar 2017, 1:26 p.m.

Panel version: 0.12

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

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