Genomics England
GMS Panels
Panels
Genes and Entities

SLC6A3

solute carrier family 6 member 3
OMIM: 126455
PanelMode of inheritanceDetails
4 panels
Green
in Childhood onset dystonia, chorea or related movement disorder
R-numbers: R57
Signed-off version 3.56
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Dopamine transporter deficiency, Parkinsonism-dystonia, infantile, 613135
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.79
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
PARKINSONISM-DYSTONIA, INFANTILE 319029
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 5.343
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
PARKINSONISM-DYSTONIA, INFANTILE
Green
in Likely inborn error of metabolism - targeted testing not possible
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 4.78
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Intellectual disability, Early onset dystonia, Dopamine transporter deficiency syndrome (Other disorders of neurotransmitter metabolism), Parkinson Disease and Complex Parkinsonism