ABCA1

ATP binding cassette subfamily A member 1
OMIM: 600046, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels
Red ABCA1 in Familial hypercholesterolaemia

Level 3: Arteriopathies
Level 2: Cardiovascular disorders
Version 1.30

review Not set
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Tangier disease, 205400
  • HDL deficiency, type 2, 604091
  • {Coronary artery disease in familial hypercholesterolemia, protection against}, 143890
  • Hypercholesterolemia
Green ABCA1 in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.620

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Tangier disease (Disorders of high density lipoprotein metabolism)
Green ABCA1 in Likely inborn error of metabolism - targeted testing not possible


Version 5.4
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 BIALLELIC, autosomal or pseudoautosomal
    Sources
    • London North GLH
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Tangier disease (Disorders of high density lipoprotein metabolism)
    Green ABCA1 in Hereditary neuropathy

    Level 3: Motor and Sensory Disorders of the PNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.478

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • London North GLH
    Phenotypes
    • Tangier disease, 205400
    • Multifocal relapsing mononeuropathies. Orange tonsils, organomegaly
    • pain, paresthesias, anaesthesia
    Green ABCA1 in Hereditary neuropathy or pain disorder


    Version 4.11
    Latest signed off version: v4.0 (1 May 2024)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • London North GLH
    • NHS GMS
    • NHS GMS
    • London North GLH
    Phenotypes
    • pain, paresthesias, anaesthesia
    • Multifocal relapsing mononeuropathies. Orange tonsils, organomegaly
    • Tangier disease, 205400
    Red ABCA1 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 ABCA1 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
    • HDL deficiency, familial, 1, 604091
    • Tangier disease, 205400