ABCD3

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

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Amber ABCD3 in Mendeliome Version 1.2374	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 0.54 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 Mendeliome Version 1.2374	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Oculopharyngodistal myopathy MONDO:0025193
Green OPDM_ABCD3_GCC STR in Limb-Girdle Muscular Dystrophy and Distal Myopathy Level 2: Neurology and neurodevelopmental disorders Version 1.45 Component of the following Super Panels: Myopathy Superpanel Neuromuscular Superpanel Progressive Neurological Conditions	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Oculopharyngodistal myopathy MONDO:0025193
Green OPDM_ABCD3_GCC STR in Repeat Disorders Version 0.168	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Other Phenotypes Oculopharyngodistal myopathy MONDO:0025193