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Newborns main panel

Gene: APOA5

Green List (high evidence)
APOA5 (apolipoprotein A5)
EnsemblGeneIds (GRCh38): ENSG00000110243
EnsemblGeneIds (GRCh37): ENSG00000110243
OMIM: 606368, Gene2Phenotype
APOA5 is in 6 panels

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
PMID: 22239554 - 2 cases. PMID: 36689289 - 10 cases
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
are we not interested in AR apolipoprotein A-V deficiency? -> KS: Added another row for the AR phenotype.
Created: 17 May 2023, 1:50 p.m. | Last Modified: 17 May 2023, 1:50 p.m.
Panel Version: 0.83
Created: 17 May 2023, 1:50 p.m.
Last Modified: 17 May 2023, 1:50 p.m.
Panel version: 0.137

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • apolipoprotein A-V deficiency
OMIM
606368
Clinvar variants
Variants in APOA5
Penetrance
None
Panels with this gene

History Filter Activity

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes apolipoprotein A-V deficiency for gene: APOA5

5 Jul 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes apolipoprotein A-V deficiency for gene: APOA5

31 May 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Phenotypes for gene: APOA5 were changed from Hyperchylomicronemia, late-onset; apolipoprotein A-V deficiency to apolipoprotein A-V deficiency

31 May 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to APOA5. Added phenotypes apolipoprotein A-V deficiency for gene: APOA5 Rating Changed from No List (delete) to Green List (high evidence)

9 Mar 2023, Gel status: 0

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Hyperchylomicronemia, late-onset for gene: APOA5

9 Mar 2023, Gel status: 0

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: APOA5 was added gene: APOA5 was added to Newborns main panel. Sources: Expert Review Removed Mode of inheritance for gene: APOA5 was set to BIALLELIC, autosomal or pseudoautosomal