Haemophagocytic syndrome with absent perforin expression
Gene: PRF1EnsemblGeneIds (GRCh38): ENSG00000180644
EnsemblGeneIds (GRCh37): ENSG00000180644
OMIM: 170280, Gene2Phenotype
PRF1 is in 10 panels
1 review
Achchuthan Shanmugasundram (Genomics England Curator)
Comment on phenotypes: This gene has been associated with MIM #603553 in OMIM and the OMIM record was last accessed on 20 December 2025.Created: 20 Dec 2025, 6:02 p.m. | Last Modified: 20 Dec 2025, 6:02 p.m.
Panel Version: 1.3
PRF1 has been added to the panel for R232 Haemophagocytic syndrome with absent perforin expression with a green rating as agreed with the NHS Genomic Medicine Service.Created: 30 Jun 2023, 1:30 p.m. | Last Modified: 30 Jun 2023, 1:30 p.m.
Panel Version: 0.1
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Hemophagocytic lymphohistiocytosis, familial, 2, OMIM:603553
- familial hemophagocytic lymphohistiocytosis 2, MONDO:0011337
- OMIM
- 170280
- Clinvar variants
- Variants in PRF1
- Penetrance
- None
- 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
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: PRF1 were changed from Hemophagocytic lymphohistiocytosis, familial, 2, OMIM:603553 to Hemophagocytic lymphohistiocytosis, familial, 2, OMIM:603553; familial hemophagocytic lymphohistiocytosis 2, MONDO:0011337
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: PRF1 were changed from to Hemophagocytic lymphohistiocytosis, familial, 2, OMIM:603553
Created, Added New Source, Set mode of inheritance
Achchuthan Shanmugasundram (Genomics England Curator)gene: PRF1 was added gene: PRF1 was added to Haemophagocytic syndrome with absent perforin expression. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: PRF1 was set to BIALLELIC, autosomal or pseudoautosomal