Genes in panel
STRs in panel
Prev Next

Undiagnosed metabolic disorders

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)

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, 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
  • Expert Review Green
  • Literature
Phenotypes
  • Familial hypertriglyceridaemia (Inherited hypertriglyceridaemias)
  • Hyperchylomicronemia, late-onset 144650
  • {Hypertriglyceridemia, susceptibility to} 145750
OMIM
606368
Clinvar variants
Variants in APOA5
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

27 Feb 2017, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Construction of “Undiagnosed Metabolic Disorders” (UDM) panel • The 614 genes from the neurometabolic gene panel (PMID: 27604308) added • Green genes downloaded from V1 metabolic panels (Cerebral folate deficiency, Congenital disorders of glycosylation, Hyperammonaemia, Ketotic hypoglycaemia, Mitochondrial disorders, Mucopolysaccharideosis, Gaucher, Fabry, Peroxisomal disorders), sources replaced with "Expert review green", then loaded as a review onto UDM panel, resulting in 367 green genes and 333 red (therefore 86 new green genes included from the additional metabolic panels that weren't previously on the UDM panel) • Downloaded green genes from all panels. Removed genes from none V1 panels. Removed genes from the metabolic panels mentioned above. Compared the remaining genes with the red genes from UDM panel. Loaded as an "Expert review Amber" review to the overlapping genes, (the panel name where the genes came from was used as the phenotype) • Used variant information from PMID 27604308 to review the genes on this panel • Reviewed genes on UDM panel with genes from Emory "Inherited Metabolic Disorders: Sequencing Panel" and UKGTN “Inborn Errors of Metabolism 226 panel”, changing status where appropriate, added 14 UKGTN genes that had not be listed before • Review 10 red genes that had not previously been reviewed, 4/10 were reclassified as green • Review the remaining 145 red genes that had not previously been reviewed (shared between reviewers EM, RF, LD, AT, HB, ON & SL), resulting in 60 green, 11 amber, 70 red, 4 I don’t know reviews) • Reviewed genes from PMID: 24816252 as a publication to genes found in the Inborn error or metabolism Genes metabolomics GWAS paper (figure 5). 2 new genes added

24 Feb 2017, Gel status: 4

Set Mode of Inheritance, Added New Source

Ellen McDonagh (Genomics England Curator)

APOA5 was added to Undiagnosed metabolic disorderspanel. Source: Expert Review Green Model of inheritance for gene APOA5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

28 Oct 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

APOA5 was created by sleigh

28 Oct 2016, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

APOA5 was added to Undiagnosed metabolic disorderspanel. Sources: Literature