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STRs in panel
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COVID-19 research

Gene: PRF1

Green List (high evidence)

PRF1 (perforin 1)
EnsemblGeneIds (GRCh38): ENSG00000180644
EnsemblGeneIds (GRCh37): ENSG00000180644
OMIM: 170280, Gene2Phenotype
PRF1 is in 7 panels

4 reviews

Kimberly Gilmour (Great Ormond Street Hopsital)

Green List (high evidence)

agree with green gene
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94

Tracy Briggs (Manchester Genomic Medicine Centre)

Green List (high evidence)

YES- this is covered on our targeted exome
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94

Sophie Hambleton (Newcastle University)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): PRF1 .PanelApp HGNC gene symbol check: PRF1 . IUIS Disease: Perforin deficiency (FHL2) . IUIS Inheritance: AR .T cells: Nl number, low nave T cells, restricted repertoire, poor proliferation to CD3, .B cells: Normal, .IUIS Other affected cells: N/A. IUIS Associated features: Fever, HSM, Hemophagocytic lymphohistiocytosis (HLH), cytopenias. IUIS Major category: Diseases of Immune Dysregulation. IUIS Subcategory: Familial Hemophagocytic Lymphohistiocytosis (FHL syndromes)
Created: 2 Jul 2018, 10:35 a.m.
from GeneReview PMID:20301617 20%-30% of Worldwide cases of FHL are FHL2 (PMID:15365097, PMID:15632205) and 50% in African American families 4 are FHL2 (PMID:14757862, PMID:16860143)
Created: 30 Apr 2018, 10:24 a.m.
Comment on publications: added genereview
Created: 30 Apr 2018, 10:17 a.m.
added early-onset tag
Created: 30 Apr 2018, 10:04 a.m.
Comment on list classification: Changed status from Amber to Green, there are more than 3 unrelated cases to support the phenotype Familial hemophagocytic lymphohistiocytosis-2 (FHL2) caused by homozygous or compound heterozygous mutation in the gene encoding perforin PRF1. Publications include: Goransdotter Ericson et al. (2001) PMID:11179007, where FHL2 was confirmed by genetic analysis reported 7 unrelated families. In PMID:10583959 Stepp et al. (1999) reported 8 unrelated patients with familial hemophagocytic lymphohistiocytosis linked to 10q21-q22, they sequenced the coding region of the PRF1 gene and identified homozygous nonsense mutations in 4 patients and missense mutations in the other 4 patients.
Created: 30 Apr 2018, 9:51 a.m.
Comment on publications: Added publications to support role of PRF1 variants in Hemophagocytic lymphohistiocytosis, familial, 2
Created: 30 Apr 2018, 9:43 a.m.
From OMIM: Familial hemophagocytic lymphohistiocytosis-2 (FHL2) is an autosomal recessive disorder of immune dysregulation with onset in infancy or early childhood. It is characterized clinically by fever, edema, hepatosplenomegaly, and liver dysfunction. Neurologic impairment, seizures, and ataxia are frequent. Laboratory studies show pancytopenia, coagulation abnormalities, hypofibrinogenemia, and hypertriglyceridemia.
Created: 30 Apr 2018, 9:41 a.m.
Comment on phenotypes: added synonyms
Created: 30 Apr 2018, 9:37 a.m.
Comment on phenotypes: added OMIM MIMid
Created: 30 Apr 2018, 9:35 a.m.
This gene was absent from the original PanelApp PID panel dataset (review April 2018). However it was listed in external expert immunodeficiency diagnostic gene list(s) GOSH or GRID. In this combined PID panel, this gene has been rated as AMBER and needs further curational review to assess pertinence prior to v1.
Created: 20 Apr 2018, 12:25 p.m.
Original metadata downloaded from ESID Registry. ESID_Gene_original: PRF1, PanelApp HGNC gene symbol check: PRF1, ESID classification: Main_category/ Sub_category/ PID_Diagnosis Diseases of immune dysregulation / Hemophagocytic Lymphohistiocytosis (HLH) / Familial hemophagocytic lymphohistiocytosis syndromes (FHLH)
Created: 17 Apr 2018, 12:29 p.m.
Original metadata supplied by GRID. GRID Gene Symbol HGNC PanelApp check: PRF1, GRID_Gene_Symbol: PRF1, GRID_Transcript_ENS_Community submitted: ENST00000441259, GRID_Transcript_RefSeq: NM_001083116.1, GRID_Transcript_ENS_used_on_Production: ENST00000441259
Created: 17 Apr 2018, 12:12 p.m.

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Fever, HSM, Hemophagocytic lymphohistiocytosis (HLH), cytopenias
  • FHL2
  • HPLH2
  • Familial hemophagocytic lymphohistiocytosis syndromes (FHLH)
  • Diseases of Immune Dysregulation
  • Hemophagocytic lymphohistiocytosis, familial 2, 603553
  • HLH2
OMIM
170280
Clinvar variants
Variants in PRF1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Apr 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: PRF1 was added gene: PRF1 was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,GOSH PID v.8.0,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: PRF1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PRF1 were set to 15365097; 11179007; 15632205; 20301617; 10583959; 14757862; 12229880; 16860143 Phenotypes for gene: PRF1 were set to Fever, HSM, Hemophagocytic lymphohistiocytosis (HLH), cytopenias; FHL2; HPLH2; Familial hemophagocytic lymphohistiocytosis syndromes (FHLH); Diseases of Immune Dysregulation; Hemophagocytic lymphohistiocytosis, familial 2, 603553; HLH2