STXBP2

syntaxin binding protein 2
OMIM: 601717
PanelMode of inheritanceDetails
3 panels
R-numbers: R90
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
613101 Hemophagocytic lymphohistiocytosis, familial, 5
R-numbers: R331
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hemophagocytic lymphohistiocytosis, familial, 5 613101
R-numbers: R15
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hemophagocytic lymphohistiocytosis, familial 5, 613101, FHL5, Familial hemophagocytic lymphohistiocytosis syndromes (FHLH), Fever, HSM, cHLH, cytopenias, enteropathy, Diseases of Immune Dysregulation