Leukodystrophy - adult onset
Gene: PRNPEnsemblGeneIds (GRCh38): ENSG00000171867
EnsemblGeneIds (GRCh37): ENSG00000171867
OMIM: 176640, Gene2Phenotype
PRNP is in 9 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
White-matter abnormalities have been reported in inherited prion diseases
Sources: OtherCreated: 1 Apr 2024, 8:31 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
fatal familial insomnia MONDO:0010808
Publications
Mode of pathogenicity
Other
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Other
- Phenotypes
-
- fatal familial insomnia MONDO:0010808
- OMIM
- 176640
- Clinvar variants
- Variants in PRNP
- Penetrance
- None
- Publications
- Mode of Pathogenicity
- Other
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: prnp has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: prnp has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity
Bryony Thompson (Royal Melbourne Hospital)gene: PRNP was added gene: PRNP was added to Leukodystrophy - adult onset. Sources: Other Mode of inheritance for gene: PRNP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PRNP were set to 25220284; 24252267 Phenotypes for gene: PRNP were set to fatal familial insomnia MONDO:0010808 Mode of pathogenicity for gene: PRNP was set to Other Review for gene: PRNP was set to GREEN gene: PRNP was marked as current diagnostic