ABCG8

ATP binding cassette subfamily G member 8
OMIM: 605460, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green ABCG8 in Bleeding and Platelet Disorders


Level 2: Haematological disorders
Version 1.62

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Sitosterolemia 1, MIM# 210250

Red ABCG8 in Cholestasis


Level 2: Gastroenterological disorders
Version 1.5

Component of the following Super Panels:

  • Liverome Superpanel
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Victorian Clinical Genetics Services
    Phenotypes
    • Sitosterolemia 1, MIM# 210250

    Green ABCG8 in Mendeliome


    Version 1.3512

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Sitosterolemia 1, MIM#210250

    Green ABCG8 in Dyslipidaemia


    Level 2: Endocrine disorders
    Version 0.46

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • 0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Royal Melbourne Hospital
    • Expert Review Green
    Phenotypes
    • Sitosterolemia

    Green ABCG8 in Familial hypercholesterolaemia


    Level 2: Cardiovascular disorders
    Version 1.0

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    Phenotypes
    • Sitosterolemia MONDO:0008863

    Green ABCG8 in Red cell disorders


    Level 2: Haematological disorders
    Version 1.33

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Yorkshire and North East GLH
    • NHS GMS
    • Wessex and West Midlands GLH
    • North West GLH
    • London South GLH
    Phenotypes
    • Sitosterolemia 1, MIM# 210250

    Green ABCG8 in Transplant Co-Morbidity


    Level 2: Screening
    Version 0.20

    0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert list
    • Expert Review Green
    Phenotypes
    • Sitosterolemia 1, MIM# 210250