PanelApp (staging)
  1. Genes and Genomic Entities
  2. VPS13A

VPS13A

vacuolar protein sorting 13 homolog A
OMIM: 605978, ClinGen, DECIPHER

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Green VPS13A in Early-onset Dementia


Level 2: Neurology and neurodevelopmental disorders
Version 1.29

Component of the following Super Panels:

  • Neurodegenerative disease - adult onset
  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Melbourne Genomics Health Alliance Complex Neurology Flagship
    • Victorian Clinical Genetics Services
    • Expert Review Green
    Phenotypes
    • Choreoacanthocytosis MIM#200150

    Green VPS13A in Early-onset Parkinson disease


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.10

    Component of the following Super Panels:

  • Neurodegenerative disease - adult onset
  • Progressive Neurological Conditions
  • Tremors_Superpanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Melbourne Genomics Health Alliance Complex Neurology Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • chorea-acanthocytosis MONDO:0008695

    Green VPS13A in Incidentalome


    Version 0.318

    		2 reviews Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green VPS13A in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.108

    Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Choreoacanthocytosis MIM#200150

    Green VPS13A in Dystonia - complex


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.272

    Component of the following Super Panels:

  • Dystonia_Superpanel
  • Progressive Neurological Conditions
  • Tremors_Superpanel

    		•  0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • complex parkinsonism
    • Choreoacanthocytosis 200150

    Green VPS13A in Limb-Girdle Muscular Dystrophy and Distal Myopathy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.42

    Component of the following Super Panels:

  • Myopathy Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • chorea-acanthocytosis MONDO:0008695

    Green VPS13A in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.109

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Choreoacanthocytosis, 200150 (3)

    Green VPS13A in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Choreoacanthocytosis

    Red VPS13A in Prepair 1000+


    Level 2: Screening
    Version 1.1566

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Mackenzie's Mission
    Phenotypes
    • Choreoacanthocytosis, 200150 (3)

    Red VPS13A in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.116

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BabySeq Category A gene
    Phenotypes
    • Choreoacanthocytosis MIM#200150