Familial cerebral small vessel disease
Gene: APP

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

2 reviews

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Numerous variants reported in this phenotype

Created: 4 Jul 2016, 8:34 a.m.

Comment on list classification: Tier 1 gene for Cerebral Small Vessel Disorders in BRIDGE Study
Created: 1 Jul 2016, 4:41 p.m.

Created: 1 Jul 2016, 4:41 p.m.

Panel version: 0.31

Rhea Tan (University of Cambridge)

Green List (high evidence)

Hereditary cerebral haemorrhage with amyloidosis - Dutch type (HCHWA-Dutch), HCHWA-Flemish, HCHWA-Italian, HCHWA-Piedmont, HCHWA-Iowa, HCHWA-Arctic
Created: 24 Jun 2016, 8:11 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Haemorrhagic stroke; stroke; ischaemic stroke; leukoencephalopathy; seizures

Publications

Created: 24 Jun 2016, 8:08 a.m.

Panel version: 0.21

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Expert list
UKGTN
Radboud University Medical Center, Nijmegen

Phenotypes

Cerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic variants, OMIM:605714
Haemorrhagic stroke
Ischaemic stroke
Leukoencephalopathy
Seizures

OMIM

104760

Clinvar variants

Variants in APP

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

3 Jan 2023, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: APP were changed from Haemorrhagic stroke; stroke; ischaemic stroke; leukoencephalopathy; seizures; Cerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic variants 605714 to Cerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic variants, OMIM:605714; Haemorrhagic stroke; Ischaemic stroke; Leukoencephalopathy; Seizures

4 Jul 2016, Gel status: 4