CARMIL2

capping protein regulator and myosin 1 linker 2
OMIM: 610859
PanelMode of inheritanceDetails
1 panel
R-numbers: R15
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Combined immunodeficiency, warts, molluscum contagiosum, and T‐cell dysfunction, EBV+ disseminated smooth muscle tumours, Recurrent bacterial, fungal and mycobacterial infections, viral warts, molluscum and EBV lymphoproliferative and other malignancy, atopy, Diseases of Immune Dysregulation