Genomics England
GMS Panels
Panels
Genes and Entities

SASH3

SAM and SH3 domain containing 3
OMIM: 300441
PanelMode of inheritanceDetails
1 panel
Green
in Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers: R15
Signed-off version 3.1
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Combined immunodeficiency, lymphopenia, neutropenia, immunodysregulation, autoimmune cytopenias