ABCG8

ATP binding cassette subfamily G member 8
OMIM: 605460, Gene2Phenotype

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Red ABCG8 in Neonatal cholestasis Level 3: Liver disease Level 2: Gastroenterological disorders Version 1.29	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Emory Genetics Laboratory Phenotypes Sitosterolemia 210250 intrahepatic cholestasis of pregnancy
Green ABCG8 in Familial hypercholesterolaemia Level 3: Arteriopathies Level 2: Cardiovascular disorders Version 1.31	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Emory Genetics Laboratory Eligibility statement prior genetic testing Phenotypes Gene part of the Global Lipid Genetic Consortium 12-SNP LDL-C gene score calculation (Talmud et al, 2013) Gene part of the 6-SNP LDL-C gene score calculation (Futema et al, 2015) Hypercholesterolemia
Green ABCG8 in Inherited bleeding disorders Level 3: Haemostasis disorders Level 2: Haematological and immunological disorders Version 1.182	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BRIDGE Study Tier 1 Gene Phenotypes Platelet disorder Sitosterolemia and Thrombocytopenia
Green ABCG8 in Rare anaemia Level 2: Haematology Version 3.19 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources London South GLH North West GLH Yorkshire and North East GLH NHS GMS Expert Review Green Wessex and West Midlands GLH Phenotypes sitosterolaemia 210250 sitosterolaemia
Green ABCG8 in Bleeding and platelet disorders Level 2: Haematology Version 4.6 Latest signed off version: v4.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green North West GLH Yorkshire and North East GLH London South GLH NHS GMS Wessex and West Midlands GLH Phenotypes 210250 Sitosterolemia & Thrombocytopenia
Amber ABCG8 in Cytopenia - NOT Fanconi anaemia Level 2: Haematology Version 4.32 Latest signed off version: v4.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert review Amber NHS GMS North West GLH London South GLH Yorkshire and North East GLH Wessex and West Midlands GLH Phenotypes Sitosterolemia with macrothrombocytopenia Sitosterolemia, 210250
Green ABCG8 in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.642	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Sitosterolaemia (Inherited hypercholesterolaemias) Familial hypercholesterolaemia
Green ABCG8 in Likely inborn error of metabolism Level 2: Metabolic Version 8.91 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Sitosterolaemia (Inherited hypercholesterolaemias) Familial hypercholesterolaemia
Red ABCG8 in Childhood onset dystonia, chorea or related movement disorder Level 2: Neurology Version 7.13 Latest signed off version: v7.0 (30 Apr 2025)	review	Not set	Sources Expert Review Red London North GLH
Green ABCG8 in Sitosterolaemia Level 2: Metabolic Version 1.4 Latest signed off version: v1.0 (14 Sep 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Sitosterolemia 1, OMIM:210250 sitosterolemia 1, MONDO:0020747