Genomics England
GMS Panels
Panels
Genes and Entities

SP110

SP110 nuclear body protein
OMIM: 604457
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
Hepatic venoocclusive disease with immunodeficiency 235550, Hepatic venoocclusive disease with immunodeficiency (VODI), Hepatic veno-occlusive disease, Susceptibility to Pneumocystis jirovecii pneumonia, CMV, candida, thrombocytopenia, hepatosplenomegaly, cerebrospinal leukodystrophy, Combined immunodeficiencies with associated or syndromic features