STXBP2 - Gene browser

STXBP2

syntaxin binding protein 2

HCNC Approved Symbol: STXBP2 (HGNC:11445)
Genomic Coordinates: 19:7,629,793 - 7,647,873 (19p13.2)
Synonyms: UNC18B, Hunc18b, Unc18-2, MUNC18-2
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

Diagnosed Cases

5Patients

In total, 5 patients were diagnosed with a variant in the STXBP2 gene.

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

05
Patient count

Pancytopenia: 3 (60.0%)
Patient Count: 3 (60.0%)
% of total patients presenting each phenotype is shown in parentheses.
3 (60.0%)
Hepatomegaly: 2 (40.0%)
Patient Count: 2 (40.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (40.0%)
Splenomegaly: 2 (40.0%)
Patient Count: 2 (40.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (40.0%)
Abnormal serum interleukin level: 1 (20.0%)
Patient Count: 1 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (20.0%)
Csf pleocytosis: 1 (20.0%)
Patient Count: 1 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (20.0%)