Familial hypercholesterolaemia
Gene: ABCG8
ABCG8 (ATP binding cassette subfamily G member 8)
EnsemblGeneIds (GRCh38): ENSG00000143921
EnsemblGeneIds (GRCh37): ENSG00000143921
OMIM: 605460, Gene2Phenotype
ABCG8 is in 10 panels
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)
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
-
- Sitosterolaemia
- Likely inborn error of metabolism
- Cytopenia - NOT Fanconi anaemia
- Undiagnosed metabolic disorders
- Familial hypercholesterolaemia
- Childhood onset dystonia, chorea or related movement disorder
- Bleeding and platelet disorders
- Rare anaemia
- Inherited bleeding disorders
- Neonatal cholestasis
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