1. Panels
  2. Disorders of immune dysregulation
  3. PRF1
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Disorders of immune dysregulation

Gene: PRF1

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Comment when marking as ready: Principal association is between bi-allelic variants and HLH.
Created: 1 Sep 2020, 4:55 a.m. | Last Modified: 1 Sep 2020, 4:55 a.m.
Panel Version: 0.4079
Created: 1 Sep 2020, 4:55 a.m.
Last Modified: 1 Sep 2020, 4:55 a.m.
Panel version: Imported from Mendeliome panel version 0.4079

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

Gene causes a greater susceptibility to lymphoma and other cancers
Residual gene activity = less severe disease, which is consistent with LoF. The more severe, the earlier the onset of disease (PMID: 19487666).

Some papers note a DN mechanism for missense (p.A91V), however pathogenicity is questionable and it has a high MAF (gnomAD).
Created: 1 Sep 2020, 2:52 a.m. | Last Modified: 1 Sep 2020, 2:52 a.m.
Panel Version: 0.4061

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Aplastic anemia 609135; Hemophagocytic lymphohistiocytosis, familial, 2 603553; Lymphoma, non-Hodgkin 605027

Publications

Created: 1 Sep 2020, 2:52 a.m.
Last Modified: 1 Sep 2020, 2:52 a.m.
Panel version: Imported from Mendeliome panel version 0.4061

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Victorian Clinical Genetics Services
OMIM
170280
Clinvar variants
Variants in PRF1
Penetrance
None
Panels with this gene

History Filter Activity

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PRF1 was added gene: PRF1 was added to Disorders of immune dysregulation_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: PRF1 was set to Unknown