Familial hypercholesterolaemia
Gene: ABCG5
ABCG5 (ATP binding cassette subfamily G member 5)
EnsemblGeneIds (GRCh38): ENSG00000138075
EnsemblGeneIds (GRCh37): ENSG00000138075
OMIM: 605459, Gene2Phenotype
ABCG5 is in 11 panels
EnsemblGeneIds (GRCh38): ENSG00000138075
EnsemblGeneIds (GRCh37): ENSG00000138075
OMIM: 605459, Gene2Phenotype
ABCG5 is in 11 panels
1 review
Ellen Thomas (Genomics England)
Sitosterolaemia has features in common with FH.Created: 2 Dec 2015, 11:02 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
- Phenotypes
-
- Hypercholesterolemia
- OMIM
- 605459
- Clinvar variants
- Variants in ABCG5
- Penetrance
- Complete
- Panels with this gene
-
- Sitosterolaemia
- Cytopenia - NOT Fanconi anaemia
- Undiagnosed metabolic disorders
- Familial hypercholesterolaemia
- Intellectual disability
- Bleeding and platelet disorders
- Rare anaemia
- Childhood onset dystonia, chorea or related movement disorder
- Inherited bleeding disorders
- Neonatal cholestasis
- Likely inborn error of metabolism
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 ABCG5 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)ABCG5 was added to Familial hypercholesterolaemiapanel. Sources: Emory Genetics Laboratory