Vasculitis
Gene: APOA2EnsemblGeneIds (GRCh38): ENSG00000158874
EnsemblGeneIds (GRCh37): ENSG00000158874
OMIM: 107670, Gene2Phenotype
APOA2 is in 2 panels
1 review
Elena Savva (Victorian Clinical Genetics Services)
PMID: 12522687 - a giant (>1000 member) family with hypercholesterolemia. Found a UTR variant functionally shown to result in ~30% reduction in promoter activity.
PMID: 25904114 - subsequent papers refer to this SNP as a polymorphism.
PMID: 2107739 - Proband with apolipoprotein A-II deficiency and a homozygous canonical splice variant. Variant is very rare in gnomAD, with no hom PTCs present. Het sibling had intermediate plasma apo AII.
ClinVar: same splice variant reported in PMID: 2107739.Created: 29 Apr 2022, 3:51 a.m. | Last Modified: 29 Apr 2022, 3:51 a.m.
Panel Version: 0.60
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Apolipoprotein A-II deficiency; {Hypercholesterolemia, familial, modifier of} MIM#143890
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Victorian Clinical Genetics Services
- Phenotypes
-
- Apolipoprotein A-II deficiency
- {Hypercholesterolemia, familial, modifier of} MIM#143890
- OMIM
- 107670
- Clinvar variants
- Variants in APOA2
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Elena Savva (Victorian Clinical Genetics Services)Gene: apoa2 has been classified as Red List (Low Evidence).
Set Phenotypes
Elena Savva (Victorian Clinical Genetics Services)Phenotypes for gene: APOA2 were changed from Apolipoprotein A-II deficiency; {Hypercholesterolemia, familial, modifier of} MIM#143890 to Apolipoprotein A-II deficiency; {Hypercholesterolemia, familial, modifier of} MIM#143890
Set publications
Elena Savva (Victorian Clinical Genetics Services)Publications for gene: APOA2 were set to PMID: 12522687; 2107739; 25904114
Set mode of inheritance
Elena Savva (Victorian Clinical Genetics Services)Mode of inheritance for gene: APOA2 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Entity classified by Genomics England curator
Elena Savva (Victorian Clinical Genetics Services)Gene: apoa2 has been classified as Red List (Low Evidence).
Set Phenotypes
Elena Savva (Victorian Clinical Genetics Services)Phenotypes for gene: APOA2 were changed from to Apolipoprotein A-II deficiency; {Hypercholesterolemia, familial, modifier of} MIM#143890
Set publications
Elena Savva (Victorian Clinical Genetics Services)Publications for gene: APOA2 were set to
Set mode of inheritance
Elena Savva (Victorian Clinical Genetics Services)Mode of inheritance for gene: APOA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Entity classified by Genomics England curator
Elena Savva (Victorian Clinical Genetics Services)Gene: apoa2 has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: APOA2 was added gene: APOA2 was added to Vasculitis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: APOA2 was set to Unknown