Adult onset leukodystrophy
Gene: APP

APP (amyloid beta precursor protein)
EnsemblGeneIds (GRCh38): ENSG00000142192
EnsemblGeneIds (GRCh37): ENSG00000142192
OMIM: 104760, Gene2Phenotype
APP is in 5 panels

3 reviews

Sarah Leigh (Genomics England Curator)

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, 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

Created: 30 Jan 2023, 5:56 p.m.
Last Modified: 30 Jan 2023, 6:23 p.m.
Panel version: 2.46

Arina Puzriakova (Genomics England Curator)

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

Created: 3 Jan 2023, 4:12 p.m.
Last Modified: 3 Jan 2023, 4:12 p.m.
Panel version: 2.7

Eleanor Williams (Genomics England Curator)

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

Created: 22 Dec 2022, 2:01 p.m.
Last Modified: 22 Dec 2022, 2:01 p.m.
Panel version: 2.3

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

NHS GMS
Expert Review Green
Expert list

Phenotypes

Cerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic variants, OMIM:605714

OMIM

104760

Clinvar variants

Variants in APP

Penetrance

None

Publications

Panels with this gene

History Filter Activity

30 Jan 2023, Gel status: 3

Removed Tag

Sarah Leigh (Genomics England Curator)

Tag Q1_23_promote_green was removed from gene: APP.

30 Jan 2023, Gel status: 3

Added New Source, Added New Source, Status Update

Sarah Leigh (Genomics England Curator)

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)

5 Jan 2023, Gel status: 2