Genomics England
GMS Panels
Panels
Genes and Entities

FCHO1

FCH domain only 1
OMIM: 613437
PanelMode of inheritanceDetails
1 panel
Green
in Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers: R15
Signed-off version 4.123
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Recurrent infections, lymphoproliferation, increased activation-induced T-cell death, defective clathrin-mediated endocytosis, FCHO1 deficiency, Immunodeficiencies affecting cellular and humoral immunity