Adult onset leukodystrophy

Gene: PSEN2

I don't know

The rating of this gene has been updated to Amber and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown following NHS Genomic Medicine Service approval.

Created: 30 Jan 2023, 5:56 p.m. | Last Modified: 30 Jan 2023, 6:17 p.m.

Panel Version: 2.46

Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least nine PSEN2 variants have been reported in separate cases of Alzheimer disease-4, OMIM:606889, and amyloid angiopathy has been reported in the Volga German family (PMID: 9450781).
This gene could be rated green on the White matter disorders - adult onset panel, if other cases that included amyloid angiopathy were identified.

Created: 5 Jan 2023, 5:23 p.m. | Last Modified: 5 Jan 2023, 5:23 p.m.

Panel Version: 2.35

Review submitted on behalf of David Lynch, James Polke, Henry Houlden, Lucy Jenkins. Mode of inheritance: AD. Phenotype: PSEN2 related cerebral amyloid angiopathy. Evidence: PMID:9450781 - Six family members with a dominant Alzheimer's disease due to a PSEN2 mutation with striking amyloid angiopathy .

Created: 22 Dec 2022, 2:01 p.m. | Last Modified: 22 Dec 2022, 2:01 p.m.

Panel Version: 2.3

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
PSEN2 related cerebral amyloid angiopathy

Publications

• 9450781