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Neurotransmitter Defects v0.3 SLC18A2 Zornitza Stark Marked gene: SLC18A2 as ready
Neurotransmitter Defects v0.3 SLC18A2 Zornitza Stark Gene: slc18a2 has been classified as Green List (High Evidence).
Neurotransmitter Defects v0.3 SLC18A2 Zornitza Stark Classified gene: SLC18A2 as Green List (high evidence)
Neurotransmitter Defects v0.3 SLC18A2 Zornitza Stark Gene: slc18a2 has been classified as Green List (High Evidence).
Neurotransmitter Defects v0.2 SLC18A2 Zornitza Stark gene: SLC18A2 was added
gene: SLC18A2 was added to Neurotransmitter Defects. Sources: Expert Review
Mode of inheritance for gene: SLC18A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC18A2 were set to 23363473; 31240161; 26497564; 9427250; 11463816; 9427251
Phenotypes for gene: SLC18A2 were set to Parkinsonism-dystonia, infantile, 2, MIM# 618049
Review for gene: SLC18A2 was set to GREEN
Added comment: At least three unrelated families reported, potential treatment implications. Associated with intellectual disability and epilepsy as well as prominent movement disorder. Three mouse models.
Sources: Expert Review