Dystonia - childhood onset
Gene: SLC18A2

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

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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

None

Publications

Panels with this gene

History Filter Activity

9 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Checked against super panel made up of the panel constituents. Ready to promote to version 1

19 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Eleanor Williams (Genomics England Curator)

gene: SLC18A2 was added gene: SLC18A2 was added to Dystonia - childhood onset. Sources: Expert Review Green Mode of inheritance for gene: SLC18A2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC18A2 were set to 26497564; 27830117; 27604308; 23363473; 28477711; 27520881; 24398404; 24018103 Phenotypes for gene: SLC18A2 were set to Brain Dopamine Serotonin Vesicular Transport Disease (Other disorders of neurotransmitter metabolism); Vesicular monoamine transporter deficiency