Adult onset leukodystrophy
Gene: APP
The rating of this gene has been updated to Green 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, 6:23 p.m.
Panel Version: 2.46
Comment on list classification: Sufficient evidence to promote this gene to Green at the next GMS panel update. >3 unrelated cases including relevant phenotype (leukoencephalopathy) and age of onset (~44 to 60 years).Created: 3 Jan 2023, 4:12 p.m. | Last Modified: 3 Jan 2023, 4:12 p.m.
Panel Version: 2.7
Review submitted on behalf of David Lynch, James Polke, Henry Houlden, Lucy Jenkins. Mode of inheritance: AD. Phenotype: CEREBRAL AMYLOID ANGIOPATHY,APP-RELATED. Evidence: MIM: 605714.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
CEREBRAL AMYLOID ANGIOPATHY,APP-RELATED
Tag Q1_23_promote_green was removed from gene: APP.
Source Expert Review Green was added to APP. Source NHS GMS was added to APP. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag Q1_23_promote_green tag was added to gene: APP.
Gene: app has been classified as Amber List (Moderate Evidence).
Publications for gene: APP were set to
Mode of inheritance for gene: APP was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: APP were changed from to Cerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic variants, OMIM:605714
gene: APP was added gene: APP was added to White matter disorders - adult onset. Sources: Expert list Mode of inheritance for gene: APP was set to