Fetal hydrops
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
1 review
Irina Adamena (Children's Clinical University Hospital)
Gene with strong evidence for fetal hydrops (PMID: 33082562)
Sources: LiteratureCreated: 11 Apr 2024, 4:17 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nonimmune hydrops fetalis
Publications
- PMID: 33082562
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Phenotypes
-
- Nonimmune hydrops fetalis
- OMIM
- 170280
- Clinvar variants
- Variants in PRF1
- Penetrance
- None
- Publications
-
- PMID: 33082562
- Panels with this gene
-
- Inherited white matter disorders
- Fetal hydrops
- Fetal anomalies
- Autoinflammatory disorders
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Haematological malignancies for rare disease
- Haematological malignancies cancer susceptibility
- Haemophagocytic syndrome with absent perforin expression
- White matter disorders and cerebral calcification - narrow panel
- COVID-19 research
History Filter Activity
11 Apr 2024, Gel status: 0
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Irina Adamena (Children's Clinical University Hospital)gene: PRF1 was added gene: PRF1 was added to Fetal hydrops. Sources: Literature Mode of inheritance for gene: PRF1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PRF1 were set to PMID: 33082562 Phenotypes for gene: PRF1 were set to Nonimmune hydrops fetalis Review for gene: PRF1 was set to GREEN