Familial hypercholesterolaemia

Gene: APOA5

Red List (low evidence)

APOA5 (apolipoprotein A5)
EnsemblGeneIds (GRCh38): ENSG00000110243
EnsemblGeneIds (GRCh37): ENSG00000110243
OMIM: 606368, Gene2Phenotype
APOA5 is in 8 panels

2 reviews

Ellen Thomas (Genomics England)

Red List (low evidence)

Sarah Leigh (Genomics England Curator)

Associated with phenotypes in OMIM, not in G2P. Associated with susceptibility to cardiovascular disease {Hypertriglyceridemia, susceptibility to} 145750. Two variants reported in at least 4 unrelated cases of Hyperchylomicronemia, late-onset 144650 (biallelic)
Created: 28 Feb 2017, 9:22 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Hyperchylomicronemia, late-onset 144650; {Hypertriglyceridemia, susceptibility to} 145750

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Hyperchylomicronemia, late-onset 144650
  • {Hypertriglyceridemia, susceptibility to} 145750
OMIM
606368
Clinvar variants
Variants in APOA5
Penetrance
Complete
Panels with this gene

History Filter Activity

28 Feb 2017, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for APOA5 were set to Hyperchylomicronemia, late-onset 144650; {Hypertriglyceridemia, susceptibility to} 145750

28 Feb 2017, Gel status: 1

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for APOA5 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

7 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

APOA5 was added to Familial hypercholesterolaemiapanel. Sources: Emory Genetics Laboratory