Familial hypercholesterolaemia

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 11 panels

1 review

Ellen Thomas (Genomics England)

Green List (high evidence)

Sitosterolaemia has features in common with FH.
Created: 2 Dec 2015, 11:02 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
210250

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