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Severe Paediatric Disorders

Gene: PRF1

Green List (high evidence)

PRF1 (perforin 1)
EnsemblGeneIds (GRCh38): ENSG00000180644
EnsemblGeneIds (GRCh37): ENSG00000180644
OMIM: 170280, Gene2Phenotype
PRF1 is in 10 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: PRF1; Recommended initial gene rating: Green List (high evidence); Phenotypes: Aplastic anemia, 609135 (3) | Hemophagocytic lymphohistiocytosis, familial, 2, 603553 (3) | Lymphoma, non-Hodgkin, 605027 (3); Mode of inheritance: ND | Autosomal recessive | ND
Created: 20 Feb 2020, 5:24 p.m. | Last Modified: 20 Feb 2020, 5:24 p.m.
Panel Version: 0.12

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Hemophagocytic lymphohistiocytosis, familial, 2, 603553
  • Lymphoma, non-Hodgkin, 605027
  • Aplastic anemia, 609135
OMIM
170280
Clinvar variants
Variants in PRF1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2020,