PanelApp
  1. Genes and Genomic Entities
  2. SLC20A2

SLC20A2

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

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green SLC20A2 in Early-onset Parkinson disease


Level 2: Neurology and neurodevelopmental disorders
Version 2.55

Component of the following Super Panels:

  • Movement Disorders Superpanel
  • Neurodegenerative disease - adult onset
  • Progressive Neurological Conditions

    		•  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 2.9

    Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  3 reviews BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Basal ganglia calcification, idiopathic, 1, MIM# 213600

    Green SLC20A2 in Mendeliome


    Version 1.4851

    		2 reviews BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Basal ganglia calcification, idiopathic, 1, MIM# 213600
    • ?hereditary multiple exostoses

    Amber SLC20A2 in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.414

    Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Basal ganglia calcification, idiopathic, 1, MIM# 213600

    Red SLC20A2 in Regression


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.611

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

    Amber SLC20A2 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.780

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Genetic Health Queensland
    Phenotypes
    • Basal ganglia calcification, idiopathic, 1, MIM#213600

    Red SLC20A2 in Paroxysmal Dyskinesia


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.145

    Component of the following Super Panels:

  • Movement Disorders 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 and Chorea


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.346

    Component of the following Super Panels:

  • Movement Disorders Superpanel
  • Progressive Neurological Conditions

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