NBEAL2

neurobeachin like 2
OMIM: 614169, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green NBEAL2 in Bleeding and Platelet Disorders


Level 2: Haematological disorders
Version 1.52

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Gray platelet syndrome, MIM# 139090

Green NBEAL2 in Bone Marrow Failure


Level 2: Haematological disorders
Version 1.114

Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    • Victorian Clinical Genetics Services
    Phenotypes
    • Gray platelet syndrome, MIM# 139090

    Green NBEAL2 in Mendeliome


    Version 1.2374

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Gray platelet syndrome, MIM# 139090

    Green NBEAL2 in Disorders of immune dysregulation


    Level 2: Immunological disorders
    Version 1.10

    Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Gray platelet syndrome, MIM# 139090
    • Immune dysregulation

    Green NBEAL2 in IBMDx study


    Version 0.35

    review Unknown
    Sources
    • Expert Review Green
    • IBMDx Study
    • Expert Review Green
    • Expert list
    • Victorian Clinical Genetics Services
    Phenotypes
    • Gray platelet syndrome, MIM# 139090

    Green NBEAL2 in Transplant Co-Morbidity Superpanel


    Level 2: Screening
    Version 0.18

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert list
    • Expert Review Green
    Phenotypes
    • Gray platelet syndrome, MIM# 139090