Haematological malignancies cancer susceptibility
Gene: PRF1
PRF1 (perforin 1)
EnsemblGeneIds (GRCh38): ENSG00000180644
EnsemblGeneIds (GRCh37): ENSG00000180644
OMIM: 170280, Gene2Phenotype
PRF1 is in 10 panels
EnsemblGeneIds (GRCh38): ENSG00000180644
EnsemblGeneIds (GRCh37): ENSG00000180644
OMIM: 170280, Gene2Phenotype
PRF1 is in 10 panels
1 review
Clare Turnbull (Queen Mary University London)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Curated sources
- Phenotypes
-
- Class: familial predisp to leukaemia (typ AD)
- various leukaemia
- lymphoma
- Lymphoma, Leukaemia
- OMIM
- 170280
- Clinvar variants
- Variants in PRF1
- Penetrance
- Complete
- Publications
-
- Cancer Gene Census
- Panels with this gene
-
- Haematological malignancies for rare disease
- Haematological malignancies cancer susceptibility
- Autoinflammatory disorders
- Haemophagocytic syndrome with absent perforin expression
- COVID-19 research
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Fetal anomalies
- Inherited white matter disorders
- White matter disorders and cerebral calcification - narrow panel
- Fetal hydrops
History Filter Activity
7 Sep 2018, Gel status: 4
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Ellen McDonagh: Comment on mode of inheritance
30 Jan 2018, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)Expert Review Green was added to PRF1. Panel: Haematological malignancies pertinent cancer susceptibility
21 Jun 2017, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)PRF1 was added to Haematological malignanciespanel. Sources: Curated sources
21 Jun 2017, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)PRF1 was created by ellenmcdonagh