RPSA:Ensemblv90

ribosomal protein SA
OMIM: 150370, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green RPSA in Mendeliome


Version 1.3802

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Asplenia, isolated congenital 271400
  • Idiopathic intestinal varices

Green RPSA in Defects of intrinsic and innate immunity


Level 2: Immunological disorders
Version 1.24

Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • 1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Melbourne Genomics Health Alliance Immunology Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Asplenia, isolated congenital, MIM# 271400

    Green RPSA in Defects of intrinsic and innate immunity


    Level 2: Immunological disorders
    Version 2.0

    1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Victorian Clinical Genetics Services
    • Melbourne Genomics Health Alliance Immunology Flagship
    • Expert Review Green
    Phenotypes
    • Asplenia, isolated congenital, MIM# 271400