Genomics England
GMS Panels
Panels
Genes and Entities

CARMIL2

capping protein regulator and myosin 1 linker 2
OMIM: 610859
PanelMode of inheritanceDetails
1 panel
Green
in Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers: R15
Signed-off version 5.3
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