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Prepair 1000+

Gene: PRF1

Green List (high evidence)
PRF1 (perforin 1)
EnsemblGeneIds (GRCh38): ENSG00000180644
EnsemblGeneIds (GRCh37): ENSG00000180644
OMIM: 170280, Gene2Phenotype
PRF1 is in 12 panels

1 review

Andrew Coventry (Victorian Clinical Genetics Services)

Green List (high evidence)

Hemophagocytic lymphohistiocytosis (HLH) is a syndrome of immune dysregulation. Signs of HLH reflect intense inflammation, caused by improper eradication of infected target cells and inability to maintain immune homeostasis through removal of activated immune cells. Causes a greater susceptibility to lymphoma and other cancers. Residual gene activity = less severe disease. The more severe, the earlier the onset of disease. Onset is generally in infancy or early childhood.
Can present prenatally, causing death in utero/within early days of life.
Functional studies present.
Created: 9 Dec 2024, 12:48 a.m. | Last Modified: 9 Dec 2024, 12:48 a.m.
Panel Version: 1.633

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hemophagocytic lymphohistiocytosis, familial, 2 MIM#603553

Publications

Created: 9 Dec 2024, 12:48 a.m.
Last Modified: 9 Dec 2024, 12:48 a.m.
Panel version: 1.633

History Filter Activity

12 Dec 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: prf1 has been classified as Green List (High Evidence).

12 Dec 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PRF1 were changed from Hemophagocytic lymphohistiocytosis, familial, 2, 603553 (3) to Hemophagocytic lymphohistiocytosis, familial, 2, MIM#603553

12 Dec 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PRF1 were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Hemophagocytic lymphohistiocytosis, familial, 2, 603553 (3) for gene: PRF1

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PRF1 was added gene: PRF1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: PRF1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PRF1 were set to Hemophagocytic lymphohistiocytosis, familial, 2, 603553 (3)