Dyslipidaemia
Gene: ABCA1
Tangier disease is an autosomal recessive disorder characterized by markedly reduced levels of plasma high density lipoproteins (HDL) resulting in tissue accumulation of cholesterol esters. Clinical features include very large, yellow-orange tonsils, enlarged liver, spleen and lymph nodes, hypocholesterolemia, and abnormal chylomicron remnants. Mono-allelic variants cause HDL deficiency.Created: 29 Aug 2020, 7:58 a.m. | Last Modified: 29 Aug 2020, 7:58 a.m.
Panel Version: 0.1
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Tangier disease, MIM# 205400; HDL deficiency, familial, 1, MIM# 604091
Publications
Gene: abca1 has been classified as Green List (High Evidence).
Phenotypes for gene: ABCA1 were changed from Tangier disease, ABCA1 deficiency, HDL deficiency, Familial hypoalphalipoproteinemia to Tangier disease, MIM# 205400; HDL deficiency, familial, 1, MIM# 604091
Publications for gene: ABCA1 were set to
gene: ABCA1 was added gene: ABCA1 was added to Hyperlipidaemia_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: ABCA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: ABCA1 were set to Tangier disease, ABCA1 deficiency, HDL deficiency, Familial hypoalphalipoproteinemia