Leukodystrophy - adult onset
Gene: PSEN2EnsemblGeneIds (GRCh38): ENSG00000143801
EnsemblGeneIds (GRCh37): ENSG00000143801
OMIM: 600759, Gene2Phenotype
PSEN2 is in 8 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
White matter abnormalities are a common feature of Alzheimer's disease
Sources: OtherCreated: 1 Apr 2024, 5:53 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
early-onset autosomal dominant Alzheimer disease MONDO:0015140
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
-
- early-onset autosomal dominant Alzheimer disease MONDO:0015140
- 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 Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: psen2 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: PSEN2 was added gene: PSEN2 was added to Leukodystrophy - adult onset. Sources: Other Mode of inheritance for gene: PSEN2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PSEN2 were set to 36845656 Phenotypes for gene: PSEN2 were set to early-onset autosomal dominant Alzheimer disease MONDO:0015140 Mode of pathogenicity for gene: PSEN2 was set to Other Review for gene: PSEN2 was set to GREEN gene: PSEN2 was marked as current diagnostic