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Red cell disorders

Gene: ABCG8

Green List (high evidence)
ABCG8 (ATP binding cassette subfamily G member 8)
EnsemblGeneIds (GRCh38): ENSG00000143921
EnsemblGeneIds (GRCh37): ENSG00000143921
OMIM: 605460, Gene2Phenotype
ABCG8 is in 7 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Sitosterolemia is characterized by unrestricted intestinal absorption of both cholesterol and plant-derived cholesterol-like molecules, such as sitosterol. Patients with this disorder have very high levels of plant sterols in the plasma and develop tendon and tuberous xanthomas, accelerated atherosclerosis, and premature coronary artery disease.

Haematological features include
- Episodic haemolysis
- Chronic haemolytic anemia
- Stomatocytosis
- Reticulocytosis
- Platelet abnormalities
- Giant platelets
- Impaired platelet aggregation
- Bleeding tendencies
Created: 4 Sep 2021, 6:07 a.m. | Last Modified: 4 Sep 2021, 6:07 a.m.
Panel Version: 0.20

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Sitosterolemia 1, MIM# 210250

Publications

Created: 4 Sep 2021, 6:07 a.m.
Last Modified: 4 Sep 2021, 6:07 a.m.
Panel version: 0.20

Details

Mode of Inheritance
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
OMIM
605460
Clinvar variants
Variants in ABCG8
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Sep 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: abcg8 has been classified as Green List (High Evidence).

4 Sep 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ABCG8 were changed from 210250 sitosterolaemia; sitosterolaemia to Sitosterolemia 1, MIM# 210250

4 Sep 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ABCG8 were set to

15 Oct 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Added phenotypes 210250 sitosterolaemia; sitosterolaemia for gene: ABCG8

15 Sep 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ABCG8 was added gene: ABCG8 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH Mode of inheritance for gene: ABCG8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ABCG8 were set to sitosterolaemia; 210250 sitosterolaemia