Genomics England
GMS Panels
Panels
Genes and Entities

NSMCE3

NSE3 homolog, SMC5-SMC6 complex component
OMIM: 608243
PanelMode of inheritanceDetails
1 panel
Green
in Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers: R15
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Lung disease, immunodeficiency, and chromosome breakage syndrome, 617241, Severe lung disease (possibly viral), thymic hypoplasia, Chromosomal breakage, radiation sensitivity, Combined immunodeficiencies with associated or syndromic features