Thoracic aortic aneurysm or dissection

Gene: ABCC6

Red List (low evidence)

ABCC6 (ATP binding cassette subfamily C member 6)
EnsemblGeneIds (GRCh38): ENSG00000091262
EnsemblGeneIds (GRCh37): ENSG00000091262
OMIM: 603234, Gene2Phenotype
ABCC6 is in 11 panels

3 reviews

Rebecca Whittington (South West GLH)

Red List (low evidence)

264800 AR pseudoxanthoma elasticum; 177850 AD psuedoxanthoma elasticum forme fruste - associated with ateriosclerosis and calcification. HGMD one variant associated with abdominal aortic aneurysm
Created: 25 Mar 2019, 4:30 p.m.
Schulz et al (J Vasc Res 2005 42:424 PMID:16127278) looked for ABCC6 variants in a cohort of patients with abdominal aortic aneurysm. They identified 5 ABCC6 variants but frequency did not differ between cases and controls leading to the conclusion that none of these variants are not associated with AAA.
Created: 25 Mar 2019, 4:27 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Ellen McDonagh (Genomics England Curator)

Not on the Inherited Cardiac Condition Genes panel 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.
Created: 19 Feb 2016, 10:51 a.m.

Matina Prapa (Genomics England Curator)

Red List (low evidence)

Pseudoxanthoma elasticum caused by ABCC6 deficiency in humans shows postnatally acquired elastic fibre fragmentation in the aorta, but does not typically show aneurysm (see ref above). No reports in the literature associating ABCC6 variants with thoracic aortic aneurysm.
Created: 9 Feb 2016, 4:06 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
#614473- Arterial calcification, generalized, of infancy, 2; #264800- Pseudoxanthoma elasticum; #177850- Pseudoxanthoma elasticum, forme fruste

Publications

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • South West GLH
  • Expert list
Phenotypes
  • #614473- Arterial calcification, generalized, of infancy, 2
  • #264800- Pseudoxanthoma elasticum
  • #177850- Pseudoxanthoma elasticum, forme fruste
OMIM
603234
Clinvar variants
Variants in ABCC6
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

2 Oct 2019, Gel status: 1

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for gene: ABCC6 were changed from to #614473- Arterial calcification, generalized, of infancy, 2; #264800- Pseudoxanthoma elasticum; #177850- Pseudoxanthoma elasticum, forme fruste

2 Oct 2019, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for gene: ABCC6 were set to

21 Feb 2019, Gel status: 1

Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

Source South West GLH was added to ABCC6. Mode of inheritance for gene ABCC6 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

3 Jul 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

ABCC6 was added to Familial thoracic aortic aneurysms and dissectionpanel. Sources: Expert list