Genomics England
GMS Panels
Panels
Genes and Entities

UNC13D

unc-13 homolog D
OMIM: 608897
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
Hemophagocytic lymphohistiocytosis, familial 3, 608898, FHL3, Familial hemophagocytic lymphohistiocytosis syndromes (FHLH), HPLH3, HLH3, Fever, HSM, HLH, cytopenias,, Diseases of Immune Dysregulation