Sarah Leigh commented on gene: APOA1: Both biallelic and monoallelic APOA1 variants are associated with OMIM:618463, however, heterozygous cases have either a milder phenotype or are unaffected. Certain heterozygous APOA1 variants are regarded as Amyloidogenic and are associated with OMIM:105200 (PMID 32022753, 24 variants listed in table 1).
Sarah Leigh Phenotypes for gene: APOA1 were changed from Apolipoprotein A-I deficiency (Disorders of high density lipoprotein metabolism); Amyloidosis, 3 or more types 105200; ApoA-I and apoC-III deficiency, combined; Corneal clouding, autosomal recessive; Hypoalphalipoproteinemia 604091 to Amyloidosis, 3 or more types OMIM:105200; familial visceral amyloidosis MONDO:0007099; ApoA-I and apoC-III deficiency, combined OMIM:618463; Hypoalphalipoproteinemia, primary, 2, with or without corneal clouding OMIM:618463; hypoalphalipoproteinemia, primary, 2 MONDO:0032766