ABCD3

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

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Red ABCD3 in Peroxisomal disorders

Level 3: Peroxisomal disorders
Level 2: Metabolic disorders
Version 1.19

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Bile acid synthesis defect, congenital, 5 616278
Red ABCD3 in Neonatal cholestasis

Level 3: Liver disease
Level 2: Gastroenterological disorders
Version 1.26

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Bile acid synthesis defect, congenital, 5 616278