APOA1

apolipoprotein A1
OMIM: 107680, Gene2Phenotype

12 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 12 panels
Green APOA1 in Periodic fever syndromes Level 3: Multi-system inflammatory/autoimmune disorders Level 2: Rheumatological disorders Version 1.33	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Eligibility statement prior genetic testing Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Amyloidosis 105200
Red APOA1 in Familial hypercholesterolaemia Level 3: Arteriopathies Level 2: Cardiovascular disorders Version 1.30	review	Not set	Sources Emory Genetics Laboratory Phenotypes Hypercholesterolemia
Green APOA1 in Hereditary systemic amyloidosis Version 1.21 Latest signed off version: v1.18 (22 Mar 2023) Component of the following Super Panels: Renal superpanel - broad	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green Phenotypes Amyloidosis, 3 or more types OMIM:105200 familial visceral amyloidosis MONDO:0007099
Red APOA1 in Corneal abnormalities Level 3: Anterior segment abnormalities Level 2: Ophthalmological disorders Version 1.13	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Corneal clouding, autosomal recessive Familial LCAT deficiency
Green APOA1 in Unexplained young onset end-stage renal disease Version 4.3 Latest signed off version: v4.0 (1 May 2024) Component of the following Super Panels: Renal superpanel - broad	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Amyloidosis, 3 or more types OMIM:105200 familial visceral amyloidosis MONDO:0007099
Green APOA1 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 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
Green APOA1 in Likely inborn error of metabolism - targeted testing not possible Version 5.3 Latest signed off version: v5.0 (1 May 2024) 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 London North GLH NHS GMS Expert Review Green Phenotypes 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
Amber APOA1 in Hereditary neuropathy Level 3: Motor and Sensory Disorders of the PNS Level 2: Neurology and neurodevelopmental disorders Version 1.478	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber NHS GMS London North GLH Phenotypes Renal failure, Axonal sensory-motor neuropathy similar to TTR FAP, amyloid nephropathy
Red APOA1 in Groopman et al 2019 - Genes with diagnostic variants Version 0.8	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Expert review red Literature Phenotypes MIM 105200 Amyloidosis, renal Glomerulopathy
Amber APOA1 in Hereditary neuropathy or pain disorder Version 4.10 Latest signed off version: v4.0 (1 May 2024)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber London North GLH NHS GMS NHS GMS London North GLH Phenotypes Renal failure, Axonal sensory-motor neuropathy similar to TTR FAP, amyloid nephropathy
Red APOA1 in Childhood onset dystonia, chorea or related movement disorder Version 4.3 Latest signed off version: v4.0 (1 May 2024)	review	Not set	Sources Expert Review Red London North GLH
Green APOA1 in Severe Paediatric Disorders Version 1.184	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Amyloidosis, 3 or more types, 105200 ApoA-I and apoC-III deficiency, combined, 618463 Hypoalphalipoproteinemia, primary, 2, with or without corneal clouding, 618463