Periodic fever syndromes
Gene: APOA2

APOA2 (apolipoprotein A2)
EnsemblGeneIds (GRCh38): ENSG00000158874
EnsemblGeneIds (GRCh37): ENSG00000158874
OMIM: 107670, Gene2Phenotype
APOA2 is in 3 panels

1 review

Alice Gardham (Genomics England)

Green List (high evidence)

Comment on list classification: All mutations affect residue 78 in exon 4
Created: 2 Feb 2017, 1:30 p.m.

Recognised cause of amyloidosis
Created: 1 Feb 2017, 3:53 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Amyloidosis

Publications

Created: 1 Feb 2017, 3:53 p.m.

Panel version: 0.58

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Literature

Phenotypes

Amyloidosis

OMIM

107670

Clinvar variants

Variants in APOA2

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

22 Feb 2017, Gel status: 4

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.

2 Feb 2017, Gel status: 4