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  3. APOA1
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Dyslipidaemia

Gene: APOA1

Green List (high evidence)
APOA1 (apolipoprotein A1)
EnsemblGeneIds (GRCh38): ENSG00000118137
EnsemblGeneIds (GRCh37): ENSG00000118137
OMIM: 107680, Gene2Phenotype
APOA1 is in 6 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Intermediate primary alphalipoproteinemia-2 is an autosomal dominant condition characterized by half-normal plasma levels of apoA-I and HDL-C. Affected individuals may develop xanthomas and corneal opacities, but most do not have increased cardiovascular risk
Created: 21 Apr 2022, 9:24 p.m. | Last Modified: 21 Apr 2022, 9:24 p.m.
Panel Version: 0.26

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Hypoalphalipoproteinemia, primary, 2, intermediate, MIM# 619836

Publications

Created: 21 Apr 2022, 9:24 p.m.
Last Modified: 21 Apr 2022, 9:24 p.m.
Panel version: 0.26

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Hypoalphalipoproteinaemia, primary, 2, intermediate, MIM# 619836
OMIM
107680
Clinvar variants
Variants in APOA1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Apr 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: apoa1 has been classified as Green List (High Evidence).

21 Apr 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: APOA1 were changed from Hypoalphalipoproteinemia, primary, 2, intermediate, MIM# 619836 to Hypoalphalipoproteinaemia, primary, 2, intermediate, MIM# 619836

21 Apr 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: APOA1 were changed from Amyloidosis, systemic nonneuronopathic, Hypoalphalipoproteinemia to Hypoalphalipoproteinemia, primary, 2, intermediate, MIM# 619836

21 Apr 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: APOA1 were set to

9 Jan 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: APOA1 was added gene: APOA1 was added to Hyperlipidaemia_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: APOA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: APOA1 were set to Amyloidosis, systemic nonneuronopathic, Hypoalphalipoproteinemia