ABCG5

ATP binding cassette subfamily G member 5
OMIM: 605459
PanelMode of inheritanceDetails
4 panels
R-numbers: R90
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
210250 Sitosterolemia & Thrombocytopenia
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
Sitosterolaemia (Inherited hypercholesterolaemias), Familial hypercholesterolaemia
Green
in Rare anaemia
R-numbers: R92
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
sitosterolaemia, 210250 sitosterolaemia
R-numbers: R323
Signed-off version 1.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes