Amyloidosis

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

Eleanor Williams (Genomics England Curator)

Green List (high evidence)

Comment on list classification: Demoting from green to amber as only 1 family reported. Agreement for the amber rating was confirmed with members of the GMS renal specialist test group.
Created: 12 Sep 2019, 3:46 p.m. | Last Modified: 8 Oct 2019, 1:07 p.m.
Panel Version: 0.18
Associated with Apolipoprotein C-III deficiency (#614028) only in OMIM.

PMID: 26790392 - Valleix et al 2016 - report a French family with severe renal amyloidosis and hypotriglyceridemia, both caused by a novel D25V apoC-III variant. The D25V apoC-III variant was only found in family members affected with amyloidosis, hypotriglyceridemia and reduced apoC-III levels, and not in healthy normotriglycemic family members.

A PubMed search with APOC3 or Apolipoprotein C-III and amyloidosis did not find any further cases.
Created: 13 Aug 2019, 1:14 p.m. | Last Modified: 13 Aug 2019, 1:14 p.m.
Panel Version: 0.7
This gene was part of an initial gene list collated by Emma Ashton (NE Thames Regional Genetics laboratory, GOSH NHS Foundation Trust) January 2019 on behalf of the GMS Renal Specialist Test Group.Gene Symbol submitted: APOC3;Suggested initial gene rating: Green;Evidence for inclusion: none provided;Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided. Other Comments: Already on the Periodic Fever Syndrome App, but evidence is amber
Created: 2 Feb 2019, 3:49 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • NHS GMS
OMIM
107720
Clinvar variants
Variants in APOC3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Sep 2019, Gel status: 2

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: apoc3 has been classified as Amber List (Moderate Evidence).

2 Feb 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications

Eleanor Williams (Genomics England Curator)

gene: APOC3 was added gene: APOC3 was added to Amyloidosis. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: APOC3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: APOC3 were set to 26790392