ABCG8

ATP binding cassette subfamily G member 8
OMIM: 605460
PanelMode of inheritanceDetails
3 panels
R-numbers: R90
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
210250 Sitosterolemia & Thrombocytopenia
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
Sitosterolaemia (Inherited hypercholesterolaemias), Familial hypercholesterolaemia
Green
in Rare anaemia
R-numbers: R92
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
sitosterolaemia, 210250 sitosterolaemia