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 1.27

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 1.450

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Tangier disease (Disorders of high density lipoprotein metabolism)

Green ABCA1 in Inborn errors of metabolism


Version 2.105
Latest signed off version: v2.104 (16 Dec 2021)

Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • 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 1.394

    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 NOT PMP22 copy number


    Version 1.28
    Latest signed off version: v1.27 (16 Dec 2021)

    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 or chorea or related movement disorder


    Version 1.87
    Latest signed off version: v1.86 (16 Dec 2021)

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

    Green ABCA1 in Severe Paediatric Disorders


    Version 1.66

    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