SLC6A3

solute carrier family 6 member 3
OMIM: 126455
PanelMode of inheritanceDetails
4 panels
R-numbers: R57
Signed-off version 1.137
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 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
PARKINSONISM-DYSTONIA, INFANTILE 319029
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Intellectual disability, Early onset dystonia, Dopamine transporter deficiency syndrome (Other disorders of neurotransmitter metabolism), Parkinson Disease and Complex Parkinsonism
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
PARKINSONISM-DYSTONIA, INFANTILE