SLC6A3

solute carrier family 6 member 3
OMIM: 126455, Gene2Phenotype

13 panels

Panel Reviews Mode of inheritance Details
13 panels

Green SLC6A3 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
  • 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 1.108

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 1.117

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 Autism


Version 0.22

review Not set
Sources
  • Expert Review Red
  • SFARI

Red SLC6A3 in Neurodegenerative disorders - adult onset


Version 2.275
Latest signed off version: v2.178 (5 Aug 2021)

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 1.542

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 Inborn errors of metabolism


Version 2.263
Latest signed off version: v2.3 (17 Feb 2020)

Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • 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


    Version 1.880
    Latest signed off version: v1.92 (21 Aug 2020)

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

    Green SLC6A3 in DDG2P


    Version 2.76
    Latest signed off version: v2.2 (13 Feb 2020)

    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 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1651
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • PARKINSONISM-DYSTONIA, INFANTILE

    Red SLC6A3 in Adult onset movement disorder


    Version 1.170
    Latest signed off version: v1.121 (5 Aug 2021)

    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 or chorea or related movement disorder


    Version 1.240
    Latest signed off version: v1.137 (5 Aug 2021)

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

    Green SLC6A3 in Severe Paediatric Disorders


    Version 1.127

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Parkinsonism-dystonia, infantile, 1, 613135