ABCD3

ATP binding cassette subfamily D member 3
OMIM: 170995, ClinGen, DECIPHER

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Amber ABCD3 in Mendeliome


Version 2.0

1 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 1.0

1 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 2.0

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

Green ABCD3_OPDM_GCC STR in Mendeliome


Version 2.0

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Oculopharyngodistal myopathy 5, MIM# 621446

Green ABCD3_OPDM_GCC STR in Limb-Girdle Muscular Dystrophy and Distal Myopathy


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Oculopharyngodistal myopathy 5, MIM# 621446

Green ABCD3_OPDM_GCC STR in Repeat Disorders


Version 1.0

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Oculopharyngodistal myopathy 5, MIM# 621446