SPPL2A

signal peptide peptidase like 2A
OMIM: 608238, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green SPPL2A in COVID-19 research


Level 2: Viral research
Version 1.141

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • London North GLH
  • NHS GMS
  • North West GLH
  • Expert Review
  • Expert Review Green
  • NHS GMS
  • North West GLH
  • London North GLH
  • Expert Review Green
  • Expert Review
  • Literature
Phenotypes
  • Defects with susceptibility to mycobacterial infection (MSMD)
  • Defects in Intrinsic and Innate Immunity
  • Susceptibility to mycobacteria
Green SPPL2A in Primary immunodeficiency or monogenic inflammatory bowel disease


Version 4.191
Latest signed off version: v4.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • North West GLH
  • London North GLH
  • Expert Review Green
  • Expert Review
  • Literature
Phenotypes
  • Defects with susceptibility to mycobacterial infection (MSMD)
  • Susceptibility to mycobacteria
  • Defects in Intrinsic and Innate Immunity
Green SPPL2A in Severe Paediatric Disorders


Version 1.182

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Defects with susceptibility to mycobacterial infection (MSMD)
  • Susceptibility to mycobacteria
  • Defects in Intrinsic and Innate Immunity