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  3. ABCG5
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Molecular autopsy

Gene: ABCG5

Amber List (moderate evidence)
ABCG5 (ATP binding cassette subfamily G member 5)
EnsemblGeneIds (GRCh38): ENSG00000138075
EnsemblGeneIds (GRCh37): ENSG00000138075
OMIM: 605459, Gene2Phenotype
ABCG5 is in 11 panels

0 reviews

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Sitosterolaemia (Inherited hypercholesterolaemias)
  • Familial hypercholesterolaemia
OMIM
605459
Clinvar variants
Variants in ABCG5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Dec 2018, Gel status: 2

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Added phenotypes Sitosterolaemia (Inherited hypercholesterolaemias); Familial hypercholesterolaemia for gene: ABCG5

20 Dec 2018, Gel status: 2

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

Ellen McDonagh (Genomics England Curator)

gene: ABCG5 was added gene: ABCG5 was added to Molecular autopsy. Sources: Expert Review Amber Mode of inheritance for gene: ABCG5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ABCG5 were set to 27604308 Phenotypes for gene: ABCG5 were set to Sitosterolaemia (Inherited hypercholesterolaemias); Familial hypercholesterolaemia