Genomics England
GMS Panels
Panels
Genes and Entities

PRF1

perforin 1
OMIM: 170280
PanelMode of inheritanceDetails
4 panels
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Aplastic anaemia, OMIM:609135, Haemophagocytic lymphohistiocytosis, familial, 2, OMIM:603553
Green
in Haematological malignancies cancer susceptibility
Signed-off version 5.0
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 1.5
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hemophagocytic lymphohistiocytosis, familial, 2, OMIM:603553, familial hemophagocytic lymphohistiocytosis 2, MONDO:0011337
Green
in Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers: R15
Signed-off version 9.91
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hemophagocytic lymphohistiocytosis, familial, 2, OMIM:603553