Genomics England
GMS Panels
Panels
Genes and Entities

SPPL2A

signal peptide peptidase like 2A
OMIM: 608238
PanelMode of inheritanceDetails
1 panel
Green
in Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers: R15
Signed-off version 6.12
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Defects with susceptibility to mycobacterial infection (MSMD), Susceptibility to mycobacteria, Defects in Intrinsic and Innate Immunity