SRPRA

SRP receptor alpha subunit
OMIM: 182180, Gene2Phenotype

1 panel

Panel Reviews Mode of inheritance Details
1 panel
Amber SRPRA in Cytopenia - NOT Fanconi anaemia


Version 3.34
Latest signed off version: v3.0 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • severe congenital neutropenia, MONDO:0018542