Genomics England
GMS Panels
Panels
Genes and Entities
SASH3
SAM and SH3 domain containing 3
OMIM:
300441
See this entity in PanelApp
Panel
Mode of inheritance
Details
Filter panels
1 panel
Green
in
Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers:
R15
Signed-off version 6.0
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Immunodeficiency 102, OMIM:301082