PanelApp (stage)
  1. Genes and Genomic Entities
  2. ABCD3

ABCD3

ATP binding cassette subfamily D member 3
OMIM: 170995, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Amber ABCD3 in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Bile acid synthesis defect, congenital, 5 (MIM#616278)

Red ABCD3 in Peroxisomal Disorders


Level 2: Metabolic disorders
Version 0.53

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Victorian Clinical Genetics Services
    Phenotypes
    • Bile acid synthesis defect, congenital, 5 (MIM#616278)

    Amber ABCD3 in Liver Failure_Paediatric


    Level 2: Gastroenterological disorders
    Version 1.24

    Component of the following Super Panels:

  • Liverome Superpanel

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Bile acid synthesis defect, congenital, 5 (MIM#616278)

    Green OPDM_ABCD3_GCC STR in Repeat Disorders


    Version 0.167

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Other
    Phenotypes
    • Oculopharyngodistal myopathy MONDO:0025193