APOB

apolipoprotein B
OMIM: 107730, Gene2Phenotype

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Green APOB in Additional findings health related Version 0.110	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Other Expert Review Green Phenotypes Familial hypercholesterolaemia Adult and child
Green APOB in Familial hypercholesterolaemia Level 3: Arteriopathies Level 2: Cardiovascular disorders Version 1.27	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green UKGTN Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Eligibility statement prior genetic testing Phenotypes Gene part of the Global Lipid Genetic Consortium 12-SNP LDL-C gene score calculation (Talmud et al, 2013) Gene part of the 6-SNP LDL-C gene score calculation (Futema et al, 2015) Ag linked Hypobetalipoproteinemia Hypobetalipoproteinemia, normotriglyceridemic Hypercholesterolemia, due to ligand-defective apo B, 144010 Familial Hypercholesterolemia Hypercholesterolemia Familial Hypercholesterolaemia
Green APOB in Lipoprotein lipase deficiency Version 1.15 Latest signed off version: v1.3 (15 Oct 2020)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green South West GLH NHS GMS Phenotypes Hypercholesterolemia, familial, 2 OMIM:144010 hypercholesterolemia, autosomal dominant, type B MONDO:0007751 Hypobetalipoproteinemia OMIM:615558 familial hypobetalipoproteinemia 1 MONDO:0014252
Green APOB in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.457	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Hypercholesterolemia, familial, 2 144010 Hypobetalipoproteinemia 615558
Green APOB in Inborn errors of metabolism Version 2.134 Latest signed off version: v2.3 (17 Feb 2020) Component of the following Super Panels: Hypotonic infant Paediatric disorders White matter disorders - childhood onset	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London North GLH NHS GMS Phenotypes Hypercholesterolemia, familial, 2 144010 Hypobetalipoproteinemia 615558
Green APOB in Familial hypercholesterolaemia - targeted panel Version 1.9 Latest signed off version: v1.2 (17 Feb 2020)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Expert Review Green UKGTN Radboud University Medical Center, Nijmegen Phenotypes Hypercholesterolemia, familial, 2, OMIM:144010
Red APOB in Childhood onset dystonia or chorea or related movement disorder Version 1.105 Latest signed off version: v1.58 (6 Oct 2020)	review	Not set	Sources Expert Review Red London North GLH
Green APOB in Severe Paediatric Disorders Version 1.77	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Hypobetalipoproteinemia, 615558 Hypercholesterolemia, familial, 2, 144010
Green APOB in Additional findings health related - children Version 1.0 Component of the following Super Panels: Additional findings health related - adults	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Other Expert Review Green Phenotypes Adult and child Familial hypercholesterolaemia