Genomics England
GMS Panels
Panels
Genes and Entities
SASH3
SAM and SH3 domain containing 3
OMIM:
300441
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Panel
Mode of inheritance
Details
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Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers:
R15
Signed-off version 5.3
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Immunodeficiency 102, OMIM:301082