Cerebral amyloid angiopathy
Gene: PRNPEnsemblGeneIds (GRCh38): ENSG00000171867
EnsemblGeneIds (GRCh37): ENSG00000171867
OMIM: 176640, Gene2Phenotype
PRNP is in 9 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
At least five probands/families reported with stopgain variants that lead to truncation of the C-terminus of the protein, which are associated with PrP amyloid in cerebral vessels
Sources: LiteratureCreated: 22 Nov 2022, 6:13 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
PrP systemic amyloidosis MONDO:0018339
Publications
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
- Literature
- Phenotypes
-
- PrP systemic amyloidosis MONDO:0018339
- OMIM
- 176640
- Clinvar variants
- Variants in PRNP
- Penetrance
- None
- Publications
- Mode of Pathogenicity
- Other
- Panels with this gene
History Filter Activity
Set mode of pathogenicity
Bryony Thompson (Royal Melbourne Hospital)Mode of pathogenicity for gene: PRNP was changed from None to Other
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
Bryony Thompson (Royal Melbourne Hospital)gene: PRNP was added gene: PRNP was added to Cerebral amyloid angiopathy. Sources: Literature Mode of inheritance for gene: PRNP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PRNP were set to 8570627; 19225789; 34128081; 19911184; 24224623 Phenotypes for gene: PRNP were set to PrP systemic amyloidosis MONDO:0018339 Review for gene: PRNP was set to GREEN gene: PRNP was marked as current diagnostic