SRPRA

SRP receptor alpha subunit
OMIM: 182180, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber SRPRA in Bone Marrow Failure


Level 2: Haematological disorders
Version 1.114

Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Schwachman-Diamond syndrome MONDO:0009833, SRPA-related

    Amber SRPRA in Mendeliome


    Version 1.2374

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Schwachman-Diamond syndrome MONDO:0009833, SRPA-related

    Amber SRPRA in Phagocyte Defects


    Level 2: Immunological disorders
    Version 1.33

    Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Schwachman-Diamond syndrome MONDO:0009833, SRPA-related