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  2. Newborns additional phenotypes panel 1
  3. APOA5
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Newborns additional phenotypes panel 1

Gene: APOA5

Amber List (moderate evidence)
APOA5 (apolipoprotein A5)
EnsemblGeneIds (GRCh38): ENSG00000110243
EnsemblGeneIds (GRCh37): ENSG00000110243
OMIM: 606368, Gene2Phenotype
APOA5 is in 6 panels

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.29
Created: 1 Jun 2023, 2:40 p.m.
Last Modified: 1 Jun 2023, 2:40 p.m.
Panel version: 0.29

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
Phenotypes
  • Hyperchylomicronemia, late-onset
OMIM
606368
Clinvar variants
Variants in APOA5
Penetrance
None
Panels with this gene

History Filter Activity

6 Feb 2024, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: apoa5 has been classified as Amber List (Moderate Evidence).

4 Oct 2023, Gel status: 1

Added New Source, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Red was added to APOA5. Rating Changed from Green List (high evidence) to Red List (low evidence)

14 Sep 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to APOA5. Added phenotypes Hyperchylomicronemia, late-onset for gene: APOA5 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

5 Jul 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to APOA5. Added phenotypes Hyperchylomicronemia, late-onset for gene: APOA5 Rating Changed from Red List (low evidence) to Amber List (moderate evidence)

31 May 2023, Gel status: 1

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

Mafalda Gomes (Genomics England Curator)

gene: APOA5 was added gene: APOA5 was added to Newborns additional phenotypes panel 1. Sources: Expert Review Red Mode of inheritance for gene: APOA5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: APOA5 were set to Hyperchylomicronemia, late-onset