1. Genes and Genomic Entities
  2. SLC6A3

SLC6A3

solute carrier family 6 member 3
OMIM: 126455, Gene2Phenotype

11 panels

Panel Reviews Mode of inheritance Details
11 panels
Green SLC6A3 in Neurotransmitter disorders

Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.11

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Literature
Phenotypes
  • Parkinsonism-dystonia, infantile, 613135
  • Dopamine transporter deficiency
Green SLC6A3 in Parkinson Disease and Complex Parkinsonism

Level 3: Neurodegenerative disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.128

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Parkinsonism-dystonia, infantile, 613135
Green SLC6A3 in Early onset dystonia

Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.152

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • {Nicotine dependence, protection against}, 188890
  • Parkinsonism-dystonia, infantile, 613135
Red SLC6A3 in Adult onset neurodegenerative disorder


Level 2: Neurology
Version 8.16
Latest signed off version: v8.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
  • NHS GMS
  • London North GLH
Phenotypes
  • Parkinsonism-dystonia, infantile, 613135
  • {Nicotine dependence, protection against}, 188890
Green SLC6A3 in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.643

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Parkinsonism-dystonia, infantile, 1, 613135
  • Dopamine transporter deficiency syndrome (Other disorders of neurotransmitter metabolism)
  • Early onset dystonia
  • Intellectual disability
  • Parkinson Disease and Complex Parkinsonism
Green SLC6A3 in Likely inborn error of metabolism


Level 2: Metabolic
Version 8.98
Latest signed off version: v8.0 (30 Apr 2025)

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
    • Intellectual disability
    • Early onset dystonia
    • Dopamine transporter deficiency syndrome (Other disorders of neurotransmitter metabolism)
    • Parkinson Disease and Complex Parkinsonism
    Red SLC6A3 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.157
    Latest signed off version: v6.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • PARKINSONISM-DYSTONIA, INFANTILE
    Green SLC6A3 in DDG2P


    Version 6.426
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • PARKINSONISM-DYSTONIA, INFANTILE 319029
    Green SLC6A3 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.304
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • PARKINSONISM-DYSTONIA, INFANTILE
    Red SLC6A3 in Adult onset dystonia, chorea or related movement disorder


    Level 2: Neurology
    Version 5.5
    Latest signed off version: v5.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • NHS GMS
    • London North GLH
    Phenotypes
    • Parkinsonism-dystonia, infantile, 613135
    Green SLC6A3 in Childhood onset dystonia, chorea or related movement disorder


    Level 2: Neurology
    Version 7.17
    Latest signed off version: v7.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PanelApp
    • Expert Review Green
    • London North GLH
    Phenotypes
    • Dopamine transporter deficiency
    • Parkinsonism-dystonia, infantile, 613135