Autoinflammatory disorders
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
Arina Puzriakova (Genomics England Curator)
Comment on list classification: New gene added to this panel by Lauma Freimane (Children's Clinical University Hospital). Biallelic variants are associated with
Hemophagocytic Lymphohistiocytosis (HLH) with multiple unrelated cases reported. This is a hyperinflammatory disorder which leads to to impaired function of cytotoxic T cells and NK cells, consistent with a defect in cellular cytotoxicity. Acquired HLH can be caused by autoinflammatory and autoimmune diseases; however, familial HLH caused by biallelic variants in this gene do not necessarily cause autoinflammation.
For this reason, rating this gene:disease association as amber on this panel. Cases should be picked up via the 'R15 Primary immunodeficiency or monogenic inflammatory bowel disease' panel, where it is already green.Created: 6 Nov 2023, 4:33 p.m. | Last Modified: 6 Nov 2023, 4:33 p.m.
Panel Version: 1.5
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Phenotypes
-
- Hemophagocytic lymphohistiocytosis, familial, 2, OMIM:603553
- OMIM
- 170280
- Clinvar variants
- Variants in PRF1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Haemophagocytic syndrome with absent perforin expression
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Haematological malignancies cancer susceptibility
- Inherited white matter disorders
- Fetal anomalies
- COVID-19 research
- Fetal hydrops
- White matter disorders and cerebral calcification - narrow panel
- Autoinflammatory disorders
- Haematological malignancies for rare disease
History Filter Activity
6 Nov 2023, Gel status: 2
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: PRF1 were set to 32098966
6 Nov 2023, Gel status: 2
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: prf1 has been classified as Amber List (Moderate Evidence).
6 Nov 2023, Gel status: 0
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: PRF1 were changed from Familial hemophagocytic lymphohistiocytosis-2 (FHL2) (OMIM: 603553) to Hemophagocytic lymphohistiocytosis, familial, 2, OMIM:603553
19 Jun 2023, Gel status: 0
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Lauma Freimane (Children's Clinical University Hospital)gene: PRF1 was added gene: PRF1 was added to Autoinflammatory disorders. Sources: Literature Mode of inheritance for gene: PRF1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PRF1 were set to 32098966 Phenotypes for gene: PRF1 were set to Familial hemophagocytic lymphohistiocytosis-2 (FHL2) (OMIM: 603553)