Genomics England
GMS Panels
Panels
Genes and Entities

ABCA1

ATP binding cassette subfamily A member 1
OMIM: 600046
PanelMode of inheritanceDetails
2 panels
Green
in Hereditary neuropathy or pain disorder
R-numbers: R78
Signed-off version 4.11
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
pain, paresthesias, anaesthesia, Multifocal relapsing mononeuropathies. Orange tonsils, organomegaly, Tangier disease, 205400
Green
in Likely inborn error of metabolism
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 5.6
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Tangier disease (Disorders of high density lipoprotein metabolism)