NFAT5

nuclear factor of activated T-cells 5
OMIM: 604708
PanelMode of inheritanceDetails
1 panel
R-numbers: R15
Signed-off version 6.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Diseases of Immune Dysregulation, IBD, recurrent sinopulmonary infections, NFAT5 haploinsufficieny