Genomics England
GMS Panels
Panels
Genes and Entities

SH2D1A

SH2 domain containing 1A
OMIM: 300490
PanelMode of inheritanceDetails
3 panels
Green
in Haematological malignancies cancer susceptibility
Signed-off version 5.0
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Class: miscellaneous, Lymphoproliferative disease, Lymphoma
Green
in Lymphoproliferative syndrome with absent SAP expression
R-numbers: R17
Signed-off version 1.4
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Lymphoproliferative syndrome, X-linked, 1, OMIM:308240, X-linked lymphoproliferative disease due to SH2D1A deficiency, MONDO:0024551
Green
in Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers: R15
Signed-off version 9.91
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Lymphoproliferative syndrome, X-linked, 1 308240, Lymphoproliferative syndrome, X-linked, 1 (XLP1), X-linked lymphoproliferative syndrome (XLP), EBV, HLH, Lymphoproliferation, Aplastic anaemia, Lymphoma. Hypogammaglobulinemia, Absent iNKT cells, Diseases of Immune Dysregulation