SLC18A2

solute carrier family 18 member A2
OMIM: 193001, ClinGen, DECIPHER

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green SLC18A2 in Early-onset Parkinson disease


Level 2: Neurology and neurodevelopmental disorders
Version 2.49

Component of the following Super Panels:

  • Movement Disorders Superpanel
  • Neurodegenerative disease - adult onset
  • Progressive Neurological Conditions
  • 2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Parkinsonism-dystonia, infantile, 2 , MIM# 618049
    • Brain dopamine-serotonin transport disease, Childhood-onset parkinsonism

    Green SLC18A2 in Mendeliome


    Version 1.4216

    2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Parkinsonism-dystonia, infantile, 2, MIM# 618049

    Green SLC18A2 in Neurotransmitter Defects


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.8

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Parkinsonism-dystonia, infantile, 2, MIM# 618049

    Green SLC18A2 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.638

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Parkinsonism-dystonia, infantile, 2, MIM# 618049

    Green SLC18A2 in Dystonia and Chorea


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.337

    Component of the following Super Panels:

  • Movement Disorders Superpanel
  • Progressive Neurological Conditions
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Parkinsonism-dystonia, infantile, 2, MIM# 618049

    Green SLC18A2 in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.147

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • BeginNGS
    Phenotypes
    • Parkinsonism-dystonia, infantile, 2, MIM# 618049
    Tags
    • treatable
    • neurological