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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 5 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

Created: 1 Feb 2017, 4:47 p.m.

Panel version: 0.61

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, OMIM:605714
OMIM
104760
Clinvar variants
Variants in APP
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

3 Jan 2023, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: APP were changed from Cerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic variants 605714 to Cerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic variants, OMIM:605714

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