Genomics England
GMS Panels
Panels
Genes and Entities

PRF1

perforin 1
OMIM: 170280
PanelMode of inheritanceDetails
3 panels
Green
in Haematological malignancies cancer susceptibility
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Class: familial predisp to leukaemia (typ AD), various leukaemia, lymphoma, Lymphoma, Leukaemia
Green
in Haemophagocytic syndrome with absent perforin expression
R-numbers: R232
Signed-off version 1.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Green
in Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers: R15
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hemophagocytic lymphohistiocytosis, familial 2, 603553, FHL2, Familial hemophagocytic lymphohistiocytosis syndromes (FHLH), HPLH2, HLH2, Fever, HSM, Hemophagocytic lymphohistiocytosis (HLH), cytopenias, Diseases of Immune Dysregulation