SLC20A2

solute carrier family 20 member 2
OMIM: 158378, ClinGen, DECIPHER

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green SLC20A2 in Early-onset Parkinson disease


Level 2: Neurology and neurodevelopmental disorders
Version 2.44

Component of the following Super Panels:

  • Neurodegenerative disease - adult onset
  • Progressive Neurological Conditions
  • Tremors_Superpanel
  • 1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Melbourne Genomics Health Alliance Complex Neurology Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Basal ganglia calcification, idiopathic, 1, MIM# 213600

    Green SLC20A2 in Brain Calcification


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.0

    Component of the following Super Panels:

  • Progressive Neurological Conditions
  • 3 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Basal ganglia calcification, idiopathic, 1, MIM# 213600

    Green SLC20A2 in Mendeliome


    Version 1.3795

    2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Basal ganglia calcification, idiopathic, 1, MIM# 213600
    • ?hereditary multiple exostoses

    Red SLC20A2 in Regression


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.600

    1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Victorian Clinical Genetics Services
    Phenotypes
    • Basal ganglia calcification, idiopathic, 1, MIM# 213600

    Red SLC20A2 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.497

    1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Genetic Health Queensland
    Phenotypes
    • Basal ganglia calcification, idiopathic, 1, MIM#213600

    Red SLC20A2 in Paroxysmal Dyskinesia


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.144

    Component of the following Super Panels:

  • Dystonia_Superpanel
  • Tremors_Superpanel
  • 2 reviews MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • Expert list
    Phenotypes
    • Basal ganglia calcification, idiopathic, 1, MIM# 213600
    • Paroxysmal kinesigenic dyskinesia

    Green SLC20A2 in Dystonia - complex


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.290

    Component of the following Super Panels:

  • Dystonia_Superpanel
  • Progressive Neurological Conditions
  • Tremors_Superpanel
  • 1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Basal ganglia calcification, idiopathic, 1 213600
    • Dystonia