PanelApp (test)
  1. Genes and Genomic Entities
  2. VPS13C

VPS13C

vacuolar protein sorting 13 homolog C
OMIM: 608879, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green VPS13C in Early-onset Dementia


Level 2: Neurology and neurodevelopmental disorders
Version 1.24

Component of the following Super Panels:

  • Neurodegenerative disease - adult onset
  • Progressive Neurological Conditions

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • autosomal recessive early-onset Parkinson disease 23 MONDO:0014796

    Green VPS13C in Early-onset Parkinson disease


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.3

    Component of the following Super Panels:

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

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Parkinson disease 23, autosomal recessive, early onset MIM#616840

    Green VPS13C in Mendeliome


    Version 1.1902

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Early-onset Parkinson disease-23, MIM# 616840

    Green VPS13C in Mitochondrial disease


    Level 2: Metabolic disorders
    Version 0.927

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Mitochondrial Flagship
    Phenotypes
    • Early-onset Parkinson disease-23, MIM# 616840