Dyslipidaemia
Gene: APOA1
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 riskCreated: 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
Mode of inheritance for gene: APOA1 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mode of inheritance for gene: APOA1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mode of inheritance for gene: APOA1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene: apoa1 has been classified as Green List (High Evidence).
Phenotypes for gene: APOA1 were changed from Hypoalphalipoproteinemia, primary, 2, intermediate, MIM# 619836 to Hypoalphalipoproteinaemia, primary, 2, intermediate, MIM# 619836
Phenotypes for gene: APOA1 were changed from Amyloidosis, systemic nonneuronopathic, Hypoalphalipoproteinemia to Hypoalphalipoproteinemia, primary, 2, intermediate, MIM# 619836
Publications for gene: APOA1 were set to
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