PODXL

podocalyxin like
OMIM: 602632, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Red PODXL 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 Unknown
    Sources
    • Literature
    Phenotypes
    • juvenile-onset Parkinson disease

    Green PODXL in Mendeliome


    Version 1.1902

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Nephrotic syndrome, MONDO:0005377, PODXL-related

    Green PODXL in Proteinuria


    Level 2: Renal and urinary tract disorders
    Version 0.225

    Component of the following Super Panels:

  • Kidneyome_SuperPanel
  • Renal Glomerular Disease_SuperPanel
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review Green
    • Literature
    • Victorian Clinical Genetics Services
    Phenotypes
    • Nephrotic syndrome

    Red PODXL in Dystonia - isolated/combined


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.37

    Component of the following Super Panels:

  • Dystonia_Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • Tremors_Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Expert list
    Phenotypes
    • juvenile-onset Parkinson disease

    Red PODXL in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • BabySeq Category C gene
    Phenotypes
    • Focal and segmental glomerulosclerosis

    Red PODXL in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.114

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • BabySeq Category C gene
    • Expert Review Red
    Phenotypes
    • Focal and segmental glomerulosclerosis