STXBP2, syntaxin binding protein 2, 6813

N. diseases: 37; N. variants: 12
Disease: Familial Hemophagocytic Lymphocytosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0272199
Disease: Familial Hemophagocytic Lymphocytosis
Familial Hemophagocytic Lymphocytosis 		0.500 GeneticVariation phenotype BEFREE FHL mutation analysis of the patient and her parents revealed that she presented compound heterozygosity for STXBP2: a novel missense mutation c.663G > C (p.Glu221Asp) and the known pathogenic splice-site mutation c.1247-1G > C (p.Val417LeufsX126). 31651895 2019