Genomics England
GMS Panels
Panels
Genes and Entities

MCM4

minichromosome maintenance complex component 4
OMIM: 602638
PanelMode of inheritanceDetails
1 panel
Green
in Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers: R15
Signed-off version 6.12
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Immunodeficiency 54, 609981, Natural killer cell and glucocorticoid deficiency with DNA repair defect, Predisposition to several viral infection, MCM4 deficiency, NK cells: low number and function. Viral infections (EBV, HSV, VZV), short stature, B cell lymphoma, adrenal failure, Combined immunodeficiencies with associated or syndromic features