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 1.93

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 1.1891

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 1.29

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