ABCG8

ATP binding cassette subfamily G member 8
OMIM: 605460, ClinGen, DECIPHER

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green ABCG8 in Bleeding and Platelet Disorders


Level 2: Haematological disorders
Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Sitosterolemia 1, MIM# 210250

Red ABCG8 in Cholestasis


Level 2: Gastroenterological disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Sitosterolemia 1, MIM# 210250

Green ABCG8 in Mendeliome


Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Sitosterolemia 1, MIM#210250

Green ABCG8 in Dyslipidaemia


Level 2: Endocrine disorders; Cardiovascular disorders
Version 1.0

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Sitosterolemia

Green ABCG8 in Familial hypercholesterolaemia


Level 2: Cardiovascular disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Sitosterolemia MONDO:0008863

Green ABCG8 in Red cell disorders


Level 2: Haematological disorders
Version 2.0

1 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
  • Sitosterolemia 1, MIM# 210250

Green ABCG8 in Transplant Co-Morbidity


Level 2: Screening
Version 1.0

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Sitosterolemia 1, MIM# 210250