Leukodystrophy - paediatric
Gene: PRF1
PRF1 (perforin 1)
EnsemblGeneIds (GRCh38): ENSG00000180644
EnsemblGeneIds (GRCh37): ENSG00000180644
OMIM: 170280, Gene2Phenotype
PRF1 is in 12 panels
EnsemblGeneIds (GRCh38): ENSG00000180644
EnsemblGeneIds (GRCh37): ENSG00000180644
OMIM: 170280, Gene2Phenotype
PRF1 is in 12 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
Leukodystrophy does not appear to be a prominent feature of the condition
Sources: Expert listCreated: 19 Jan 2020, 5:25 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hemophagocytic lymphohistiocytosis, familial, 2 603553
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert list
- Phenotypes
-
- Hemophagocytic lymphohistiocytosis, familial, 2 603553
- OMIM
- 170280
- Clinvar variants
- Variants in PRF1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Disorders of immune dysregulation
- Mackenzie's Mission_Reproductive Carrier Screening
- Leukodystrophy - paediatric
- Fetal anomalies
- Additional findings_Paediatric
- Prepair 1000+
- Mendeliome
- BabyScreen+ newborn screening
- Vasculitis
- Hydrops fetalis
- Prepair 500+
- Intellectual disability syndromic and non-syndromic
History Filter Activity
19 Jan 2020, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: PRF1 was added gene: PRF1 was added to Leukodystrophy - paediatric_RMH. Sources: Expert list Mode of inheritance for gene: PRF1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PRF1 were set to 23443029; 21959744 Phenotypes for gene: PRF1 were set to Hemophagocytic lymphohistiocytosis, familial, 2 603553 Review for gene: PRF1 was set to RED