SPPL2A

signal peptide peptidase like 2A
OMIM: 608238, Gene2Phenotype

3 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 3 panels
Green SPPL2A in COVID-19 research Level 2: Viral research Version 1.142	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 5.3 Latest signed off version: v5.0 (1 May 2024)	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 1.184	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