Adult onset leukodystrophy

Gene: GSN

Green List (high evidence)

The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.

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

Panel Version: 2.46

Associated with Amyloidosis, Finnish type, in OMIM and as definitive gene for this phenotype in Gen2Phen. At least 4 variants have been reported (PMID: 25097823; 33973672; 33499149).

Created: 5 Jan 2023, 12:04 p.m. | Last Modified: 5 Jan 2023, 12:04 p.m.

Panel Version: 2.23

Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.

Created: 5 Jan 2023, noon | Last Modified: 5 Jan 2023, noon

Panel Version: 2.23

Review submitted on behalf of David Lynch, James Polke, Henry Houlden, Lucy Jenkins. Mode of inheritance: AD. Phenotype: Hereditary gelsolin amyloidosis. Evidence: PMID: 25097823. Two recurrent variants, originally identified in Finland but subsequently in multiple populations. CSN involvement thought to be related to CAA..

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
Hereditary gelsolin amyloidosis

Publications

• 25097823