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  2. Bleeding and Platelet Disorders
  3. ABCG5
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Bleeding and Platelet Disorders

Gene: ABCG5

Green List (high evidence)
ABCG5 (ATP binding cassette subfamily G member 5)
EnsemblGeneIds (GRCh38): ENSG00000138075
EnsemblGeneIds (GRCh37): ENSG00000138075
OMIM: 605459, Gene2Phenotype
ABCG5 is in 10 panels

1 review

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, 2:45 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Sitosterolemia 2, MIM# 618666

Publications

Created: 11 Aug 2020, 2:45 a.m.

Panel version: 0.24

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Sitosterolemia 2, MIM# 618666
Tags
treatable clinical trial
OMIM
605459
Clinvar variants
Variants in ABCG5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Sep 2022, Gel status: 3

Added Tag, Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag treatable tag was added to gene: ABCG5. Tag clinical trial tag was added to gene: ABCG5.

11 Aug 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: abcg5 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: abcg5 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: ABCG5 was added gene: ABCG5 was added to Bleeding Disorders. Sources: Expert list Mode of inheritance for gene: ABCG5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ABCG5 were set to 32546081; 23556150 Phenotypes for gene: ABCG5 were set to Sitosterolemia 2, MIM# 618666 Review for gene: ABCG5 was set to GREEN