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  2. Periodic fever syndromes
  3. APOC3
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Periodic fever syndromes

Gene: APOC3

Amber List (moderate evidence)
APOC3 (apolipoprotein C3)
EnsemblGeneIds (GRCh38): ENSG00000110245
EnsemblGeneIds (GRCh37): ENSG00000110245
OMIM: 107720, Gene2Phenotype
APOC3 is in 3 panels

1 review

Alice Gardham (Genomics England)

I don't know

Only reported in one family so far -await further evidence
Created: 2 Feb 2017, 2:23 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Amyloidosis

Publications

Created: 2 Feb 2017, 2:23 p.m.

Panel version: 0.88

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Amyloidosis
OMIM
107720
Clinvar variants
Variants in APOC3
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

22 Feb 2017, Gel status: 2

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: 2

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Amber List (Moderate Evidence).

2 Feb 2017, Gel status: 0

Added New Source

Alice Gardham (Genomics England)

APOC3 was added to Periodic fever syndromespanel. Sources: Literature

2 Feb 2017, Gel status: 0

Created

Alice Gardham (Genomics England)

APOC3 was created by agardham