Familial hypercholesterolaemia
Gene: APOA5
APOA5 (apolipoprotein A5)
EnsemblGeneIds (GRCh38): ENSG00000110243
EnsemblGeneIds (GRCh37): ENSG00000110243
OMIM: 606368, Gene2Phenotype
APOA5 is in 6 panels
EnsemblGeneIds (GRCh38): ENSG00000110243
EnsemblGeneIds (GRCh37): ENSG00000110243
OMIM: 606368, Gene2Phenotype
APOA5 is in 6 panels
2 reviews
Ellen Thomas (Genomics England)
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