Genomics England
GMS Panels
Panels
Genes and Entities

SLC18A2

solute carrier family 18 member A2
OMIM: 193001
PanelMode of inheritanceDetails
3 panels
Green
in Childhood onset dystonia, chorea or related movement disorder
R-numbers: R57
Signed-off version 5.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Parkinsonism-dystonia, infantile, 2, OMIM:618049
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.15
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
SLC18A2-related neurotransmitter disorder with dystonia and oculogyric crisis
Green
in Likely inborn error of metabolism
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 6.14
BIALLELIC, autosomal or pseudoautosomal
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)