Cerebral amyloid angiopathy
Gene: PSEN2EnsemblGeneIds (GRCh38): ENSG00000143801
EnsemblGeneIds (GRCh37): ENSG00000143801
OMIM: 600759, Gene2Phenotype
PSEN2 is in 8 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
Single PSEN2 variant (N141I) segregating with cerebral amyloid angiopathy in a single family (or possibly two families, not clear if the same family is referenced in both publications).
Sources: LiteratureCreated: 22 Nov 2022, 6:43 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
cerebral amyloid angiopathy MONDO:0005620
Publications
Mode of pathogenicity
Other
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Amber
- Literature
- Phenotypes
-
- cerebral amyloid angiopathy MONDO:0005620
- OMIM
- 600759
- Clinvar variants
- Variants in PSEN2
- 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: psen2 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: psen2 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity
Bryony Thompson (Royal Melbourne Hospital)gene: PSEN2 was added gene: PSEN2 was added to Cerebral amyloid angiopathy. Sources: Literature Mode of inheritance for gene: PSEN2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PSEN2 were set to 9450781; 26888304 Phenotypes for gene: PSEN2 were set to cerebral amyloid angiopathy MONDO:0005620 Mode of pathogenicity for gene: PSEN2 was set to Other Review for gene: PSEN2 was set to AMBER