RPSA

ribosomal protein SA
OMIM: 150370, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green RPSA in COVID-19 research


Level 2: Viral research
Version 1.76

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • GRID V2.0
  • Victorian Clinical Genetics Services
  • North West GLH
  • ESID Registry 20171117
  • Expert Review Green
  • NHS GMS
  • North West GLH
  • London North GLH
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • ESID Registry 20171117
  • GRID V2.0
Phenotypes
  • Isolated congential asplenia 271400
  • Bacteremia (encapsulated bacteria)
  • Defects in Intrinsic and Innate Immunity

Green RPSA in Primary immunodeficiency


Version 2.402
Latest signed off version: v2.1 (24 Feb 2020)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • North West GLH
  • London North GLH
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • ESID Registry 20171117
  • GRID V2.0
Phenotypes
  • Isolated congential asplenia 271400
  • Bacteremia (encapsulated bacteria)
  • Defects in Intrinsic and Innate Immunity

Red RPSA in Familial non syndromic congenital heart disease

Level 3: Congenital heart disease
Level 2: Cardiovascular disorders
Version 1.57

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Asplenia, isolated congenital, 271400

Green RPSA in Severe Paediatric Disorders


Version 1.66

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Asplenia, isolated congenital, 271400