Genomics England
GMS Panels
Panels
Genes and Entities

ABCG8

ATP binding cassette subfamily G member 8
OMIM: 605460
PanelMode of inheritanceDetails
4 panels
Green
in Bleeding and platelet disorders
R-numbers: R90
Signed-off version 4.16
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
210250 Sitosterolemia & Thrombocytopenia
Green
in Likely inborn error of metabolism
Component of the following Super Panels:
  • - Hypotonic infant
  • - Leukodystrophy, childhood onset
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 9.29
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Sitosterolaemia (Inherited hypercholesterolaemias), Familial hypercholesterolaemia
Green
in Rare anaemia
R-numbers: R92
Signed-off version 4.7
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
sitosterolaemia, 210250 sitosterolaemia
Green
in Sitosterolaemia
R-numbers: R323
Signed-off version 1.5
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Sitosterolemia 1, OMIM:210250, sitosterolemia 1, MONDO:0020747