Genomics England
GMS Panels
Panels
Genes and Entities

STXBP2

syntaxin binding protein 2
OMIM: 601717
PanelMode of inheritanceDetails
3 panels
Green
in Bleeding and platelet disorders
R-numbers: R90
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
613101 Hemophagocytic lymphohistiocytosis, familial, 5
Green
in Intestinal failure or congenital diarrhoea
R-numbers: R331
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hemophagocytic lymphohistiocytosis, familial, 5, OMIM:613101
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 5, 613101, FHL5, Familial hemophagocytic lymphohistiocytosis syndromes (FHLH), Fever, HSM, cHLH, cytopenias, enteropathy, Diseases of Immune Dysregulation