SLC1A3

solute carrier family 1 member 3
OMIM: 600111, Gene2Phenotype

12 panels

Panel Reviews Mode of inheritance Details
12 panels

Green SLC1A3 in Alternating Hemiplegia and Hemiplegic Migraine


Level 2: Neurology and neurodevelopmental disorders
Version 0.57

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hemiplegic migraine

Green SLC1A3 in Brain Channelopathies


Level 2: Neurology and neurodevelopmental disorders
Version 1.3

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    • Victorian Clinical Genetics Services
    Phenotypes
    • Episodic ataxia, type 6 MIM#612656

    Green SLC1A3 in Mendeliome


    Version 1.1891

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Episodic ataxia, type 6, MIM# 612656

    Green SLC1A3 in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.33

    Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Episodic ataxia, type 6, MIM# 612656

    Red SLC1A3 in Regression


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.556

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Victorian Clinical Genetics Services
    Phenotypes
    • Episodic ataxia, type 6, MIM# 612656

    Red SLC1A3 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Genetic Health Queensland
    Phenotypes
    • Episodic ataxia, type 6, MIM#612656

    Green SLC1A3 in Paroxysmal Dyskinesia


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.131

    Component of the following Super Panels:

  • Dystonia_Superpanel
  • Neuromuscular Superpanel
  • Tremors_Superpanel
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Royal Children's Hospital Neurology Department
    • Victorian Clinical Genetics Services
    Phenotypes
    • Episodic ataxia, type 6, MIM# 612656

    Green SLC1A3 in Ataxia - adult onset


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.16

    Component of the following Super Panels:

  • Ataxia_Superpanel
  • Neurodegenerative disease - adult onset
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert Review Green
    • Literature
    • Victorian Clinical Genetics Services
    Phenotypes
    • Episodic ataxia, type 6 MIM#612656

    Green SLC1A3 in Ataxia - paediatric


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.26

    Component of the following Super Panels:

  • Ataxia_Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Episodic ataxia, type 6
    • Episodic ataxia type 6, 612656

    Green SLC1A3 in Episodic Ataxia


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.1

    Component of the following Super Panels:

  • Ataxia_Superpanel
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Episodic ataxia, type 6 MIM#612656

    Green SLC1A3 in Aminoacidopathy


    Level 2: Metabolic disorders
    Version 1.128

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • ClinGen
    Phenotypes
    • episodic ataxia type 6 MONDO:0012982

    Red SLC1A3 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.113

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Expert list
    Phenotypes
    • Episodic ataxia, type 6 MIM#612656
    Tags
    • neurological