Arina Puzriakova Mode of inheritance for gene: APOB was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sarah Leigh edited their review of gene: APOB: Added comment: The mode of inheritance for APOB should be both monoallelic and biallelic, as Hypercholesterolemia, familial, 2 OMIM:144010 is monoallelic and Hypobetalipoproteinemia OMIM:615558 is biallelic.; Changed rating: GREEN; Changed mode of pathogenicity: Other; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sarah Leigh Phenotypes for gene: APOB were changed from Hypercholesterolemia, familial, 2 144010; Hypobetalipoproteinemia 615558 to Hypercholesterolemia, familial, 2 OMIM:144010; hypercholesterolemia, autosomal dominant, type B MONDO:0007751; Hypobetalipoproteinemia OMIM:615558; familial hypobetalipoproteinemia 1 MONDO:0014252
Sarah Leigh Phenotypes for gene: APOB were changed from Familial hypobetalipoproteinaemia (Inherited hypolipidaemias); Familial hypercholesterolaemia to Hypercholesterolemia, familial, 2 144010; Hypobetalipoproteinemia 615558
Sarah Leigh Added comment: Comment on list classification: Associated with phenotype in OMIM and not in Gen2Phen. At least 5 variants associated with Hypobetalipoproteinemia 615558 without other variants in other genes and 2 variants associated with Hypercholesterolemia, familial, 2 144010 in numberous cases.