APOA1

apolipoprotein A1
OMIM: 107680, Gene2Phenotype

11 panels

Panel Reviews Mode of inheritance Details
11 panels

Green APOA1 in Periodic fever syndromes

Level 3: Multi-system inflammatory/autoimmune disorders
Level 2: Rheumatological disorders
Version 1.31

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 Amyloidosis


Version 1.14
Latest signed off version: v1.2 (13 Feb 2020)

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 1.12

    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 Undiagnosed metabolic disorders

    Level 3: Specific metabolic abnormalities
    Level 2: Metabolic disorders
    Version 1.542

    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 Inborn errors of metabolism


    Version 2.263
    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 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 1.454

    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 NOT PMP22 copy number


    Version 1.103
    Latest signed off version: v1.36 (5 Aug 2021)

    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 or chorea or related movement disorder


    Version 1.246
    Latest signed off version: v1.137 (5 Aug 2021)

    review Not set
    Sources
    • Expert Review Red
    • London North GLH

    Green APOA1 in Severe Paediatric Disorders


    Version 1.127

    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