This Panel is marked as Retired
Multiple Tumours
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
Ellen McDonagh (Genomics England Curator)
Information from TruSight panel: Pathogenic Mutations are Inactivating.Created: 5 Feb 2016, 11:46 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- TruSight Cancer Panel (Illumina)
- Phenotypes
-
- Familial Hemophagocytic Lymphohistiocytosis
- Lymphoid hematological malignancy (lymphoma)
- OMIM
- 170280
- Clinvar variants
- Variants in PRF1
- Penetrance
- Complete
- Panels with this gene
-
- Fetal anomalies
- 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
- Inherited white matter disorders
- White matter disorders and cerebral calcification - narrow panel
- Fetal hydrops
History Filter Activity
5 Feb 2016, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)PRF1 was added to Multiple Tumourspanel. Sources: TruSight Cancer Panel (Illumina)
5 Feb 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)PRF1 was created by ellenmcdonagh