Familial hypercholesterolaemia

Gene: APOA2

Red List (low evidence)

APOA2 (apolipoprotein A2)
EnsemblGeneIds (GRCh38): ENSG00000158874
EnsemblGeneIds (GRCh37): ENSG00000158874
OMIM: 107670, Gene2Phenotype
APOA2 is in 3 panels

1 review

Ellen Thomas (Genomics England)

Red List (low evidence)

Details

Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Apolipoprotein A-II deficiency {Hypercholesterolemia, familial, modification of}, 143890
OMIM
107670
Clinvar variants
Variants in APOA2
Penetrance
Complete
Panels with this gene

History Filter Activity

7 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

APOA2 was added to Familial hypercholesterolaemiapanel. Sources: Radboud University Medical Center, Nijmegen