ABCA1

ATP binding cassette subfamily A member 1
OMIM: 600046
PanelMode of inheritanceDetails
2 panels
R-numbers: R78
Signed-off version 1.36
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
pain, paresthesias, anaesthesia, Multifocal relapsing mononeuropathies. Orange tonsils, organomegaly, Tangier disease, 205400
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Tangier disease (Disorders of high density lipoprotein metabolism)