Genes in panel

Inborn errors of metabolism

Gene: APOA5

Green List (high evidence)

APOA5 (apolipoprotein A5)
EnsemblGeneIds (GRCh38): ENSG00000110243
EnsemblGeneIds (GRCh37): ENSG00000110243
OMIM: 606368, Gene2Phenotype
APOA5 is in 7 panels

1 review

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

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, 4:41 p.m. | Last Modified: 5 Aug 2021, 4:41 p.m.
Panel Version: 2.171
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, 4:30 p.m. | Last Modified: 5 Aug 2021, 4:30 p.m.
Panel Version: 2.171
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: 23 Feb 2017, 5:11 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

Publications

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Hyperchylomicronemia, late-onset OMIM:144650
  • hyperlipoproteinemia type V MONDO:0007762
  • {Hypertriglyceridemia, susceptibility to} OMIM:145750
  • hypertriglyceridemia, familial MONDO:0007788
Tags
Q3_21_MOI
OMIM
606368
Clinvar variants
Variants in APOA5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Aug 2021, Gel status: 3

Added Tag

Sarah Leigh (Genomics England Curator)

Tag Q3_21_MOI tag was added to gene: APOA5.

5 Aug 2021, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: APOA5 were set to 27604308; 27678447; 16200213; 12417525; 23307945

5 Aug 2021, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: APOA5 were set to 27604308; 27678447; 16200213; 12417525

5 Aug 2021, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: APOA5 were changed from Hyperchylomicronemia, late-onset 144650; Familial hypertriglyceridaemia (Inherited hypertriglyceridaemias); {Hypertriglyceridemia, susceptibility to} 145750 to Hyperchylomicronemia, late-onset OMIM:144650; hyperlipoproteinemia type V MONDO:0007762; {Hypertriglyceridemia, susceptibility to} OMIM:145750; hypertriglyceridemia, familial MONDO:0007788

5 Aug 2021, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: APOA5 were set to 27604308; 27678447; 16200213

5 Aug 2021, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: APOA5 were set to 27604308; 27678447; 16200213

5 Aug 2021, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: APOA5 were set to 27604308; 27678447; 16200213

4 Aug 2021, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: APOA5 were set to 27604308

13 Feb 2019, Gel status: 4

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to APOA5. Source London North GLH was added to APOA5.

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Checked against super panel made up of the panel constituents. Ready to promote to version 1.

16 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: APOA5 was added gene: APOA5 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: APOA5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: APOA5 were set to 27604308 Phenotypes for gene: APOA5 were set to Hyperchylomicronemia, late-onset 144650; Familial hypertriglyceridaemia (Inherited hypertriglyceridaemias); {Hypertriglyceridemia, susceptibility to} 145750