1. Panels
  2. Fetal anomalies
  3. PRF1
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

Fetal anomalies

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

Krithika Murali (Victorian Clinical Genetics Services)

Green List (high evidence)

Heeg et al report 12 patients presenting with FHLH2 in utero or in first 10 days of life from registry and publication data (these 12 genetically confirmed)
PMID: 19595804

Vermulen et al report two siblings with homozygous PRF1 variants, first sib died in utero with hydrops and second sib presented in neonatal period
PMID: 26199792

Iwatani et al report newborn infant with comp het PRF1 variants, and in utero ascites
PMID: 30070073
Sources: Expert list, Literature
Created: 22 Nov 2021, 5:58 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Aplastic anemia - #609135; Hemophagocytic lymphohistiocytosis, familial, 2 - #603553

Publications

Created: 22 Nov 2021, 5:58 a.m.

Panel version: 0.643

Tegan French (Victorian Clinical Genetics Services)

Green List (high evidence)

Heeg et al report 12 patients presenting with FHLH2 in utero or in first 10 days of life from registry and publication data (these 12 genetically confirmed)
PMID: 19595804

Vermulen et al report two siblings with homozygous PRF1 variants, first sib died in utero with hydrops and second sib presented in neonatal period
PMID: 26199792

Iwatani et al report newborn infant with comp het PRF1 variants, and in utero ascites
PMID: 30070073
Sources: Other
Created: 19 Apr 2020, 7:28 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Aplastic anemia; Hemophagocytic lymphohistiocytosis, familial, 2 AR; Lymphoma, non-Hodgkin

Publications

Created: 19 Apr 2020, 7:28 a.m.

Panel version: Imported from Hydrops fetalis panel version 0.112

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Expert list
Phenotypes
  • Aplastic anaemia - #609135
  • Haemophagocytic lymphohistiocytosis, familial, 2 - #603553
OMIM
170280
Clinvar variants
Variants in PRF1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

22 Nov 2021, 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).

22 Nov 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PRF1 were changed from Aplastic anemia - #609135; Hemophagocytic lymphohistiocytosis, familial, 2 - #603553 to Aplastic anaemia - #609135; Haemophagocytic lymphohistiocytosis, familial, 2 - #603553

22 Nov 2021, 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).

22 Nov 2021, Gel status: 0

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

Krithika Murali (Victorian Clinical Genetics Services)

gene: PRF1 was added gene: PRF1 was added to Fetal anomalies. Sources: Expert list,Literature Mode of inheritance for gene: PRF1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PRF1 were set to 19595804; 26199792; 30070073 Phenotypes for gene: PRF1 were set to Aplastic anemia - #609135; Hemophagocytic lymphohistiocytosis, familial, 2 - #603553 Review for gene: PRF1 was set to GREEN