SLC18A2

solute carrier family 18 member A2
OMIM: 193001, Gene2Phenotype

5 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Green SLC18A2 in Neurotransmitter disorders Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Brain Dopamine Serotonin Vesicular Transport Disease (Other disorders of neurotransmitter metabolism) Vesicular monoamine transporter deficiency
Green SLC18A2 in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.617	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature 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)
Green SLC18A2 in Likely inborn error of metabolism - targeted testing not possible Version 4.137 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	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)
Amber SLC18A2 in Childhood onset dystonia, chorea or related movement disorder Version 3.78 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber PanelApp London North GLH Phenotypes ?Parkinsonism-dystonia, infantile, 2, OMIM:618049 Tags Q3_23_promote_green
Amber SLC18A2 in Severe Paediatric Disorders Version 1.184	review	BIALLELIC, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Amber Expert list Phenotypes ?Spinal muscular atrophy, distal, autosomal recessive, 2, 605726 ?Amyotrophic lateral sclerosis 16, juvenile, 614373