SPPL2A:Ensemblv115

signal peptide peptidase like 2A
OMIM: 608238, ClinGen, DECIPHER

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Amber SPPL2A in Mendelian susceptibility to Immune Disorders


Level 2: Immunological disorders
Version 1.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Amber
Phenotypes
  • Immunodeficiency 86, MIM#619549

Amber SPPL2A in Defects of intrinsic and innate immunity


Level 2: Immunological disorders
Version 2.0

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