SPPL2A

signal peptide peptidase like 2A
OMIM: 608238, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Amber SPPL2A in Mendeliome


Version 1.2374

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Immunodeficiency 86, MIM#619549
  • Susceptibility to mycobacteria and Salmonella

Amber SPPL2A in Defects of intrinsic and innate immunity


Level 2: Immunological disorders
Version 1.20

Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Literature
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Immunodeficiency 86, MIM#619549
    • Susceptibility to mycobacteria and Salmonella