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Severe hypertriglyceridaemia

Gene: APOA5

Green List (high evidence)

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

3 reviews

steve Humphries (UCL)

Green List (high evidence)

Third most common. Carriers may have modest to significant elevation of TG depending on co-inheritance of other TG raising SNPs
Created: 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)

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 144650
Created: 4 May 2017, 2:54 p.m.

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, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Eligibility statement prior genetic testing
Phenotypes
  • 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

4 May 2017, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Review added and all genes checked

4 May 2017, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

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

4 May 2017, Gel status: 4

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for APOA5 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

4 May 2017, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

4 May 2017, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for APOA5 were set to 16200213

6 Mar 2017, Gel status: 2

Added New Source

Olivia Niblock (Genomics England Curator)

APOA5 was added to Severe hypertriglyceridaemiapanel. Source: UKGTN

6 Mar 2017, Gel status: 1

Added New Source

Olivia Niblock (Genomics England Curator)

APOA5 was added to Severe hypertriglyceridaemiapanel. Source: Radboud University Medical Center, Nijmegen

28 Feb 2017, Gel status: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

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

27 Sep 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

APOA5 was created by ellenmcdonagh

27 Sep 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

APOA5 was added to Severe hypertriglyceridaemiapanel. Sources: Eligibility statement prior genetic testing