Inherited white matter disorders
Gene: PRF1
PRF1 (perforin 1)
EnsemblGeneIds (GRCh38): ENSG00000180644
EnsemblGeneIds (GRCh37): ENSG00000180644
OMIM: 170280, Gene2Phenotype
PRF1 is in 10 panels
EnsemblGeneIds (GRCh38): ENSG00000180644
EnsemblGeneIds (GRCh37): ENSG00000180644
OMIM: 170280, Gene2Phenotype
PRF1 is in 10 panels
2 reviews
Sarah Leigh (Genomics England Curator)
Comment on list classification: This gene is awaiting curator evaluation and rating.Created: 19 Dec 2018, 1:04 p.m.
Zornitza Stark (Australian Genomics)
Bi-allelic variants typically associated with HLH; however, note this report describing neurodegeneration including white matter abnormalities in siblings without typical HLH features. Merits watching for further reports.Created: 24 Jul 2018, 6:13 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- OMIM
- 170280
- Clinvar variants
- Variants in PRF1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Haemophagocytic syndrome with absent perforin expression
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Haematological malignancies cancer susceptibility
- Inherited white matter disorders
- Fetal anomalies
- COVID-19 research
- Fetal hydrops
- White matter disorders and cerebral calcification - narrow panel
- Autoinflammatory disorders
- Haematological malignancies for rare disease
History Filter Activity
19 Dec 2018, Gel status: 1
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: prf1 has been classified as Red List (Low Evidence).
24 Jul 2018, Gel status: 0
Added New Source
Zornitza Stark (Australian Genomics)PRF1 was added to Inherited white matter disorders panel. Sources: Expert list
24 Jul 2018, Gel status: 0
Created
Zornitza Stark (Australian Genomics)PRF1 was created by Zornitza Stark