Genomics England
GMS Panels
Panels
Genes and Entities

STXBP3

syntaxin binding protein 3
OMIM: 608339
PanelMode of inheritanceDetails
1 panel
Green
in Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers: R15
Signed-off version 6.12
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Very Early Onset Inflammatory Bowel Disease, Sensorineural hearing loss, Syntaxin binding protein 3 defect