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  2. Likely inborn error of metabolism
  3. SLC18A2
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Likely inborn error of metabolism

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 5 panels

2 reviews

Catherine Snow (Genomics England)

Green List (high evidence)

This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.

Promoted from Amber to Green. SLC18A2 is associated with an appropriate number of variants as detailed in PMID:31240161. Therefore, enough evidence for this gene to be promoted to Green status.
Created: 31 Oct 2019, 12:14 p.m. | Last Modified: 31 Oct 2019, 12:14 p.m.
Panel Version: 1.386

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Parkinsonism-dystonia, infantile, 2, 618049

Publications

Created: 31 Oct 2019, 12:14 p.m.
Last Modified: 31 Oct 2019, 12:14 p.m.
Panel version: 1.386

Arianna Tucci (Genomics England Curator)

gene: SLC18A2 review by Arianna Tucci

Two families described so with biallelic variants in SLC18A2. Early treatment with a dopamine agonist, pramipexole may lead to symptomatic improvement in affected individuals.
Created: 23 Feb 2017, 5:16 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Brain Dopamine Serotonin Vesicular Transport Disease (Other disorders of neurotransmitter metabolism) (NO phenotype number in OMIM)

Publications

Created: 23 Feb 2017, 5:16 p.m.

Panel version: Imported from Undiagnosed metabolic disorders panel version 0.304

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Brain Dopamine Serotonin Vesicular Transport Disease (Other disorders of neurotransmitter metabolism)
  • Brain Dopamine Serotonin Vesicular Transport Disease (Other disorders of neurotransmitter metabolism) (NO phenotype number in OMIM)
OMIM
193001
Clinvar variants
Variants in SLC18A2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

31 Oct 2019, Gel status: 3

Entity classified by Genomics England curator

Catherine Snow (Genomics England)

Gene: slc18a2 has been classified as Green List (High Evidence).

31 Oct 2019, Gel status: 3

Entity classified by Genomics England curator

Catherine Snow (Genomics England)

Gene: slc18a2 has been classified as Green List (High Evidence).

13 Feb 2019, Gel status: 2

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to SLC18A2. Source London North GLH was added to SLC18A2.

8 Jan 2019, Gel status: 2

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with relevant pheno

16 Dec 2018, Gel status: 2

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

Ellen McDonagh (Genomics England Curator)

gene: SLC18A2 was added gene: SLC18A2 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: SLC18A2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC18A2 were set to 27604308; 26497564; 23363473 Phenotypes for gene: SLC18A2 were set to Brain Dopamine Serotonin Vesicular Transport Disease (Other disorders of neurotransmitter metabolism); Brain Dopamine Serotonin Vesicular Transport Disease (Other disorders of neurotransmitter metabolism) (NO phenotype number in OMIM)