ARPC1B

actin related protein 2/3 complex subunit 1B
OMIM: 604223, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green ARPC1B in Bleeding and Platelet Disorders


Level 2: Haematological disorders
Version 1.43

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia, MIM# 617718
Tags
  • treatable

Green ARPC1B in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease 617718
Tags
  • treatable

Green ARPC1B in Combined Immunodeficiency


Level 2: Immunological disorders
Version 1.66

Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease 617718
    Tags
    • treatable

    Green ARPC1B 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
    • Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease, 617718 (3), Autosomal recessive

    Green ARPC1B in Prepair 1000+


    Level 2: Screening
    Version 1.9

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease, 617718 (3), Autosomal recessive

    Green ARPC1B in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.113

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • BeginNGS
    Phenotypes
    • Immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia, MIM#617718
    Tags
    • treatable
    • immunological

    Green ARPC1B in Transplant Co-Morbidity Superpanel


    Level 2: Screening
    Version 0.18

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert list
    • Expert Review Green
    Phenotypes
    • Immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia, MIM# 617718