SH2D1A

SH2 domain containing 1A
OMIM: 300490
PanelMode of inheritanceDetails
2 panels
Signed-off version 2.2
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Class: miscellaneous, Lymphoproliferative disease, Lymphoma
R-numbers: R15
Signed-off version 2.1
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