STXBP2

syntaxin binding protein 2
OMIM: 601717, Gene2Phenotype

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Green STXBP2 in Infantile enterocolitis & monogenic inflammatory bowel disease Level 3: Gastrointestinal disorders Level 2: Gastroenterological disorders Version 1.45	review	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services UKGTN Expert list Phenotypes Hemophagocytic lymphohistiocytosis, familial, 5 613101
Green STXBP2 in Gastrointestinal epithelial barrier disorders Level 3: Gastrointestinal disorders Level 2: Gastroenterological disorders Version 1.76	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Emory Genetics Laboratory Phenotypes Early Onset Inflammatory Bowel Disease Inflammatory Bowel Disease (Very Early Onset) Hemophagocytic lymphohistiocytosis, familial, 5 613101
Green STXBP2 in COVID-19 research Level 2: Viral research Version 1.147	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources IUIS Classification December 2030 IUIS Classification February 2018 London North GLH GOSH PID v.8.0 NHS GMS GRID V2.0 Victorian Clinical Genetics Services North West GLH ESID Registry 20171117 Expert Review Green NHS GMS North West GLH London North GLH IUIS Classification February 2018 Victorian Clinical Genetics Services Expert Review Green ESID Registry 20171117 GRID V2.0 GOSH PID v.8.0 Phenotypes Hemophagocytic lymphohistiocytosis, familial 5, 613101 Diseases of Immune Dysregulation Fever, HSM, cHLH, cytopenias, enteropathy FHL5 Familial hemophagocytic lymphohistiocytosis syndromes (FHLH)
Green STXBP2 in Intestinal failure or congenital diarrhoea Level 2: Gastrohepatology Version 3.7 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other NHS GMS Phenotypes Hemophagocytic lymphohistiocytosis, familial, 5, OMIM:613101
Green STXBP2 in Inherited bleeding disorders Level 3: Haemostasis disorders Level 2: Haematological and immunological disorders Version 1.182	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BRIDGE Study Tier 1 Gene Phenotypes Familial hemophagocytic lymphohistiocytosis type 5
Green STXBP2 in Primary immunodeficiency or monogenic inflammatory bowel disease Level 2: Immunology Version 8.85 Latest signed off version: v8.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other NHS GMS North West GLH London North GLH IUIS Classification February 2018 Victorian Clinical Genetics Services ESID Registry 20171117 GRID V2.0 GOSH PID v.8.0 Phenotypes Hemophagocytic lymphohistiocytosis, familial 5, 613101 FHL5 Familial hemophagocytic lymphohistiocytosis syndromes (FHLH) Fever, HSM, cHLH, cytopenias, enteropathy Diseases of Immune Dysregulation
Amber STXBP2 in Haematological malignancies cancer susceptibility Level 2: Cancer susceptibility Version 4.40 Latest signed off version: v4.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Expert list Phenotypes risk of lymphoma predisposition to acute lymphoblastic leukemia (ALL) Hemophagocytic lymphohistiocytosis, familial, 5 613101
Green STXBP2 in Bleeding and platelet disorders Level 2: Haematology Version 4.6 Latest signed off version: v4.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources North West GLH Yorkshire and North East GLH London South GLH NHS GMS Expert Review Green Wessex and West Midlands GLH Phenotypes 613101 Hemophagocytic lymphohistiocytosis, familial, 5
Red STXBP2 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.169 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Hemophagocytic lymphohistiocytosis, familial, 5, with or without microvillus inclusion disease