VIPAS39

VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog
OMIM: 613401, Gene2Phenotype

13 panels

Panel Reviews Mode of inheritance Details
13 panels

Green VIPAS39 in Arthrogryposis


Level 2: Neurology and neurodevelopmental disorders
Version 0.411

Component of the following Super Panels:

  • Neuromuscular Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Arthrogryposis, renal dysfunction, and cholestasis 2, MIM#613404

    Green VIPAS39 in Bleeding and Platelet Disorders


    Level 2: Haematological disorders
    Version 1.43

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Arthrogryposis, renal dysfunction, and cholestasis 2, MIM# 613404

    Green VIPAS39 in Cholestasis


    Level 2: Gastroenterological disorders
    Version 0.240

    Component of the following Super Panels:

  • Liverome Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Arthrogryposis, renal dysfunction, and cholestasis 2, MIM#613404

    Green VIPAS39 in Mendeliome


    Version 1.1902

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Arthrogryposis, renal dysfunction, and cholestasis 2, MIM#613404

    Green VIPAS39 in Lysosomal Storage Disorder


    Level 2: Metabolic conditions
    Version 1.11

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Arthrogryposis, renal dysfunction, and cholestasis 2, MIM# 613404

    Green VIPAS39 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Arthrogryposis, renal dysfunction, and cholestasis 2
    • OMIM #613404

    Green VIPAS39 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.109

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Arthrogryposis, renal dysfunction, and cholestasis 2, 613404 (3)

    Green VIPAS39 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Arthrogryposis, renal dysfunction and cholestasis

    Green VIPAS39 in Fetal anomalies


    Version 1.255

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Expert list
    Phenotypes
    • Arthrogryposis, renal dysfunction, and cholestasis 2, OMIM #613404

    Green VIPAS39 in Prepair 1000+


    Level 2: Screening
    Version 1.9

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Arthrogryposis, renal dysfunction, and cholestasis 2, 613404 (3)

    Red VIPAS39 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.114

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BabySeq Category A gene
    Phenotypes
    • Arthrogryposis, renal dysfunction, and cholestasis MIM#613404

    Green VIPAS39 in Renal Tubulopathies and related disorders


    Level 2: Renal and urinary tract disorders
    Version 1.14

    Component of the following Super Panels:

  • Kidneyome_SuperPanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • KidGen_Tubulopathies v38.1.0
    • Expert Review Green
    • KidGen_Tubulopathies v38.1.0
    Phenotypes
    • Arthrogryposis, renal dysfunction, and cholestasis 2, MIM#613404

    Green VIPAS39 in Transplant Co-Morbidity Superpanel


    Level 2: Screening
    Version 0.18

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert list
    • Expert Review Green
    Phenotypes
    • Arthrogryposis, renal dysfunction, and cholestasis 2, MIM# 613404