ABCA1

ATP binding cassette subfamily A member 1
OMIM: 600046, Gene2Phenotype

5 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Green ABCA1 in Mendeliome Version 1.1902	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Tangier disease, MIM# 205400 HDL deficiency, familial, 1, MIM# 604091
Green ABCA1 in Dyslipidaemia Level 2: Endocrine disorders Version 0.41 Component of the following Super Panels: Metabolic Disorders Superpanel	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Tangier disease, MIM# 205400 HDL deficiency, familial, 1, MIM# 604091
Green ABCA1 in Hereditary Neuropathy - complex Level 2: Neurology and neurodevelopmental disorders Version 1.14 Component of the following Super Panels: Hereditary Neuropathy_CMT_IsolatedAndComplex Neuromuscular Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Tangier Disease (MONDO:0008783 MIM#205400)
Green ABCA1 in Stroke Level 2: Neurology and neurodevelopmental disorders Version 1.16	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Tangier disease MIM#205400
Green ABCA1 in Transplant Co-Morbidity Superpanel Level 2: Screening Version 0.18	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes HDL deficiency, familial, 1, MIM# 604091 Tangier disease, MIM# 205400