Periodic fever syndromes

Gene: APP

Red List (low evidence)

APP (amyloid beta precursor protein)
EnsemblGeneIds (GRCh38): ENSG00000142192
EnsemblGeneIds (GRCh37): ENSG00000142192
OMIM: 104760, Gene2Phenotype
APP is in 4 panels

1 review

Alice Gardham (Genomics England)

Comment when marking as ready: Cerebral amyloid not included on this panel after internal discussion
Created: 6 Feb 2017, 9:24 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic variants 605714

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • Literature
Phenotypes
  • Cerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic variants 605714
OMIM
104760
Clinvar variants
Variants in APP
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

22 Feb 2017, Gel status: 1

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

22nd February 2017: Promoted to V1. Panel was reviewed by Tracy Briggs and Alice Gardham. Panel was revised according to expert review and additional curation.

6 Feb 2017, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Red List (Low Evidence).

1 Feb 2017, Gel status: 0

Created

Alice Gardham (Genomics England)

APP was created by agardham

1 Feb 2017, Gel status: 1

Added New Source

Alice Gardham (Genomics England)

APP was added to Periodic fever syndromespanel. Sources: Radboud University Medical Center, Nijmegen,Literature