APOB

apolipoprotein B
OMIM: 107730, Gene2Phenotype

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Green APOB in Additional findings health related Version 0.114	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 1.30	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 Hypercholesterolemia, familial, 2, OMIM:144010
Red APOB in Familial chylomicronaemia syndrome (FCS) Version 3.3 Latest signed off version: v3.0 (22 Mar 2023)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red 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 Intestinal failure or congenital diarrhoea Version 3.3 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Hypobetalipoproteinemia, OMIM:615558
Green APOB in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.617	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Hypercholesterolemia, familial, 2 OMIM:144010 hypercholesterolemia, autosomal dominant, type B MONDO:0007751 Hypobetalipoproteinemia OMIM:615558 familial hypobetalipoproteinemia 1 MONDO:0014252
Green APOB in Likely inborn error of metabolism - targeted testing not possible Version 4.137 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green London North 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 Familial hypercholesterolaemia (GMS) Version 2.4 Latest signed off version: v2.0 (22 Mar 2023)	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, chorea or related movement disorder Version 3.78 Latest signed off version: v3.0 (22 Mar 2023)	review	Not set	Sources Expert Review Red London North GLH
Green APOB in Severe Paediatric Disorders Version 1.184	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