ABCA1

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

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green ABCA1 in Mendeliome


Version 1.1891

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Tangier disease, MIM# 205400
  • HDL deficiency, familial, 1, MIM# 604091

Green ABCA1 in Dyslipidaemia


Level 2: Endocrine disorders
Version 0.41

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Tangier disease, MIM# 205400
    • HDL deficiency, familial, 1, MIM# 604091

    Green ABCA1 in Hereditary Neuropathy - complex


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.14

    Component of the following Super Panels:

  • Hereditary Neuropathy_CMT_IsolatedAndComplex
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Tangier Disease (MONDO:0008783
    • MIM#205400)

    Green ABCA1 in Stroke


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.16

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Tangier disease MIM#205400

    Green ABCA1 in Transplant Co-Morbidity Superpanel


    Level 2: Screening
    Version 0.18

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • HDL deficiency, familial, 1, MIM# 604091
    • Tangier disease, MIM# 205400