ABCG5

ATP binding cassette subfamily G member 5
OMIM: 605459, Gene2Phenotype

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Green ABCG5 in Bleeding and Platelet Disorders Level 2: Haematological disorders Version 1.43	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Sitosterolemia 2, MIM# 618666 Tags treatable clinical trial
Red ABCG5 in Cholestasis Level 2: Gastroenterological disorders Version 0.240 Component of the following Super Panels: Liverome Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Sitosterolemia 2, MIM# 618666
Green ABCG5 in Mendeliome Version 1.1891	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Sitosterolaemia 2, MIM# 618666 Tags treatable clinical trial
Red ABCG5 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Sitosterolemia 2, MIM#618666
Green ABCG5 in Dyslipidaemia Level 2: Endocrine disorders Version 0.41 Component of the following Super Panels: Metabolic Disorders Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Sitosterolaemia 2, MIM# 618666 Tags treatable clinical trial
Green ABCG5 in Familial hypercholesterolaemia Level 2: Cardiovascular disorders Version 0.27	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Sitosterolaemia 2, MIM# 618666 Tags treatable clinical trial
Green ABCG5 in Additional findings_Paediatric Level 2: Screening Version 0.278	review	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Sitosterolemia
Green ABCG5 in Red cell disorders Level 2: Haematological disorders Version 1.24	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Yorkshire and North East GLH NHS GMS Wessex and West Midlands GLH North West GLH London South GLH Phenotypes Sitosterolaemia 2, MIM# 618666 Tags treatable clinical trial
Green ABCG5 in BabyScreen+ newborn screening Level 2: Screening Version 1.113	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BabySeq Category A gene Phenotypes Sitosterolaemia 2, MIM# 618666 Tags treatable clinical trial metabolic
Green ABCG5 in Transplant Co-Morbidity Superpanel Level 2: Screening Version 0.18	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Sitosterolaemia 2, MIM# 618666