Genomics England
GMS Panels
Panels
Genes and Entities

NFAT5

nuclear factor of activated T-cells 5
OMIM: 604708
PanelMode of inheritanceDetails
1 panel
Green
in Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers: R15
Signed-off version 6.12
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Diseases of Immune Dysregulation, IBD, recurrent sinopulmonary infections, NFAT5 haploinsufficieny