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  2. Familial hypercholesterolaemia
  3. ABCA1
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Familial hypercholesterolaemia

Gene: ABCA1

Red List (low evidence)
ABCA1 (ATP binding cassette subfamily A member 1)
EnsemblGeneIds (GRCh38): ENSG00000165029
EnsemblGeneIds (GRCh37): ENSG00000165029
OMIM: 600046, Gene2Phenotype
ABCA1 is in 6 panels

1 review

Ellen Thomas (Genomics England)

Red List (low evidence)

Causes Tangier disease in biallelic form, which is very unlikely to present like FH.
Created: 13 Dec 2015, 9:45 p.m.
Created: 13 Dec 2015, 9:45 p.m.

Panel version: 0

Details

Sources
  • Expert Review Red
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Tangier disease, 205400
  • HDL deficiency, type 2, 604091
  • {Coronary artery disease in familial hypercholesterolemia, protection against}, 143890
  • Hypercholesterolemia
OMIM
600046
Clinvar variants
Variants in ABCA1
Penetrance
Complete
Panels with this gene

History Filter Activity

28 Jun 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

28 Jun 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

7 Oct 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

ABCA1 was added to Familial hypercholesterolaemiapanel. Source: Emory Genetics Laboratory

7 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

ABCA1 was added to Familial hypercholesterolaemiapanel. Sources: Radboud University Medical Center, Nijmegen