Severe hypertriglyceridaemia
Gene: APOA5EnsemblGeneIds (GRCh38): ENSG00000110243
EnsemblGeneIds (GRCh37): ENSG00000110243
OMIM: 606368, Gene2Phenotype
APOA5 is in 6 panels
3 reviews
steve Humphries (UCL)
Third most common. Carriers may have modest to significant elevation of TG depending on co-inheritance of other TG raising SNPsCreated: 4 May 2017, 9:01 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Variants in this GENE are reported as part of current diagnostic practice
Sarah Leigh (Genomics England Curator)
The Q3_21_MOI tag has been added to this gene as the MOI should be changed to - BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal.Created: 5 Aug 2021, 4:40 p.m. | Last Modified: 5 Aug 2021, 4:40 p.m.
Panel Version: 1.16
Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene for familial hypertriglycidaemia. Both risk polymorphisms (PMID 12417525; 12915450) and rarer APOA5 variants have been identified in hyperchylomicronemia, late-onset (OMIM:144650) and susceptibility to hypertriglyceridemia (OMIM:145750)(PMID: 23307945; 27678447; 16200213). In general, cases carrying biallelic variants (both polymorphisms and rarer variants) have a severer phenotype than monoallelic carriers (PMID: 12417525; 23307945; 27678447; 16200213).Created: 5 Aug 2021, 4:23 p.m. | Last Modified: 5 Aug 2021, 4:23 p.m.
Panel Version: 1.16
Associated with phenotypes in OMIM, not in G2P. Associated with susceptibility to cardiovascular disease {Hypertriglyceridemia, susceptibility to} 145750. One variant reported in at least 4 unrelated cases of Hyperchylomicronemia, late-onset 144650 (both biallelic and monogenic)Created: 4 May 2017, 2:56 p.m.
Comment on mode of inheritance: Hyperchylomicronemia, late-onset 144650Created: 4 May 2017, 2:54 p.m.
Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Hyperchylomicronemia, late-onset 144650; {Hypertriglyceridemia, susceptibility to} 145750
Ellen McDonagh (Genomics England Curator)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
{Hypertriglyceridemia, susceptibility to}
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- UKGTN
- Radboud University Medical Center, Nijmegen
- Eligibility statement prior genetic testing
- Phenotypes
-
- Hyperchylomicronemia, late-onset OMIM:144650
- hyperlipoproteinemia type V MONDO:0007762
- {Hypertriglyceridemia, susceptibility to} OMIM:145750
- hypertriglyceridemia, familial MONDO:0007788
- OMIM
- 606368
- Clinvar variants
- Variants in APOA5
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Set mode of inheritance
Arina Puzriakova (Genomics England Curator)Mode of inheritance for gene: APOA5 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Removed Tag
Arina Puzriakova (Genomics England Curator)Tag Q3_21_MOI was removed from gene: APOA5.
Added Tag
Sarah Leigh (Genomics England Curator)Tag Q3_21_MOI tag was added to gene: APOA5.
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: APOA5 were set to 27604308; 12417525; 27678447; 16200213
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: APOA5 were changed from Hyperchylomicronemia, late-onset 144650; {Hypertriglyceridemia, susceptibility to} 145750 to Hyperchylomicronemia, late-onset OMIM:144650; hyperlipoproteinemia type V MONDO:0007762; {Hypertriglyceridemia, susceptibility to} OMIM:145750; hypertriglyceridemia, familial MONDO:0007788
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: APOA5 were set to 16200213
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Review added and all genes checked
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for APOA5 were set to Hyperchylomicronemia, late-onset 144650; {Hypertriglyceridemia, susceptibility to} 145750
Set Mode of Inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for APOA5 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Sarah Leigh (Genomics England Curator)Publications for APOA5 were set to 16200213
Added New Source
Olivia Niblock (Genomics England Curator)APOA5 was added to Severe hypertriglyceridaemiapanel. Source: UKGTN
Added New Source
Olivia Niblock (Genomics England Curator)APOA5 was added to Severe hypertriglyceridaemiapanel. Source: Radboud University Medical Center, Nijmegen
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for APOA5 were set to Hyperchylomicronemia, late-onset 144650; {Hypertriglyceridemia, susceptibility to} 145750
Added New Source
Ellen McDonagh (Genomics England Curator)APOA5 was added to Severe hypertriglyceridaemiapanel. Sources: Eligibility statement prior genetic testing
Created
Ellen McDonagh (Genomics England Curator)APOA5 was created by ellenmcdonagh