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  2. Bleeding and Platelet Disorders
  3. ABCG8
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Bleeding and Platelet 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

2 reviews

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

Established gene disease association to sitosterolemia
Created: 15 Mar 2022, 3:54 a.m. | Last Modified: 15 Mar 2022, 3:54 a.m.
Panel Version: 0.11388

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Sitosterolemia 1 MIM#210250

Created: 15 Mar 2022, 3:54 a.m.
Last Modified: 15 Mar 2022, 3:54 a.m.
Panel version: Imported from Mendeliome panel version 0.11388

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Thrombocytopaenia is a feature of this metabolic disorder.
Sources: Expert list
Created: 11 Aug 2020, 2:47 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Sitosterolemia 1, MIM# 210250

Publications

Created: 11 Aug 2020, 2:47 a.m.

Panel version: 0.26

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Sitosterolemia 1, MIM# 210250
OMIM
605460
Clinvar variants
Variants in ABCG8
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Aug 2020, 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).

11 Aug 2020, 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).

11 Aug 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ABCG8 was added gene: ABCG8 was added to Bleeding Disorders. Sources: Expert list Mode of inheritance for gene: ABCG8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ABCG8 were set to 32546081; 23556150 Phenotypes for gene: ABCG8 were set to Sitosterolemia 1, MIM# 210250 Review for gene: ABCG8 was set to GREEN