Familial hypercholesterolaemia

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 10 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

On the Inherited Cardiac Condition Genes panel for Familial Hypercholesterolaemia reported in: Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition Genes, Pua et al, Journal of Cardiovascular Translational Research, online Feb 2016 (doi:10.​1007/​s12265-016-9673-5). The panel contains disease-causing, putatively pathogenic, research and phenocopy genes, and it is unclear from the publication whether this gene falls into the disease-causing category. No. of mutations indicated in supplemental table = 1.
Created: 19 Feb 2016, 2:46 p.m.

Ellen Thomas (Genomics England)

Green List (high evidence)

Sitosterolaemia is a recessive disorder which can have similar clinical features to FH.
Created: 2 Dec 2015, 11:01 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
210250

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • Eligibility statement prior genetic testing
Phenotypes
  • Gene part of the Global Lipid Genetic Consortium 12-SNP LDL-C gene score calculation (Talmud et al, 2013)
  • Gene part of the 6-SNP LDL-C gene score calculation (Futema et al, 2015)
  • Hypercholesterolemia
OMIM
605460
Clinvar variants
Variants in ABCG8
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

28 Jun 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

28 Jun 2016, Gel status: 4

Set Mode of Inheritance

Ellen Thomas (Genomics England Curator)

Mode of inheritance for ABCG8 was changed to BIALLELIC, autosomal or pseudoautosomal

28 Jun 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

7 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

ABCG8 was added to Familial hypercholesterolaemiapanel. Source: Emory Genetics Laboratory

7 Oct 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

ABCG8 was added to Familial hypercholesterolaemiapanel. Sources: Eligibility statement prior genetic testing