Likely inborn error of metabolism - targeted testing not possible
Gene: SLC18A2
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
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
Gene: slc18a2 has been classified as Green List (High Evidence).
Gene: slc18a2 has been classified as Green List (High Evidence).
Source NHS GMS was added to SLC18A2. Source London North GLH was added to SLC18A2.
Sarah Leigh: Associated with relevant pheno
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)