Familial cerebral small vessel disease

Gene: ABCC6

Green List (high evidence)

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

2 reviews

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Numerous LOF variants reported for this phenotype
Created: 1 Jul 2016, 4:20 p.m.
Comment on list classification: Tier 1 gene in BRIDGE Study
Created: 1 Jul 2016, 4:18 p.m.

Rhea Tan (University of Cambridge)

Green List (high evidence)

Pseudoxanthoma elasticum is an autosomal recessive connective tissue disease and is cause of young-onset cerebral small vessel disease, with patients presenting with multiple lacunar infarcts and extensive white matter hyperintensities. Some patients may also present with intracerebral haemorrhage.

Patients also have cardiovascular features such as hypertension, angina, intermittent claudication and restrictive cardiomyopathy, bleeding from the gastrointestinal tract, skin lesions (yellow papules) and visual impairment with peau d'orange or angioid streaks on the retina, neovascularisation and retinal haemorrhages.
Created: 24 Jun 2016, 8:01 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Pseudoxanthoma elasticum

Publications

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Pseudoxanthoma elasticum 264800 AR
  • Pseudoxanthoma elasticum, forme fruste 177850 AD
OMIM
603234
Clinvar variants
Variants in ABCC6
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

4 Jul 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for ABCC6 were set to Pseudoxanthoma elasticum 264800 AR; Pseudoxanthoma elasticum, forme fruste 177850 AD

4 Jul 2016, Gel status: 4

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for ABCC6 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

4 Jul 2016, Gel status: 4

Set publications

Sarah Leigh (Genomics England Curator)

Publications for ABCC6 were set to 15825558; 17964712; 697322

1 Jul 2016, Gel status: 4

Upload gene information

Sarah Leigh (Genomics England Curator)

ABCC6 was added to Familial cerebral small vessel diseasepanel. Sources: Expert list

1 Jul 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

1 Jul 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

1 Jul 2016, Gel status: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for ABCC6 were set to Pseudoxanthoma elasticum 264800

1 Jul 2016, Gel status: 0

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for ABCC6 was changed to BIALLELIC, autosomal or pseudoautosomal

27 Jun 2016, Gel status: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for ABCC6 were set to Pseudoxanthoma elasticum

22 Jun 2016, Gel status: 0

Added New Source

Rhea Tan (University of Cambridge)

ABCC6 was added to Familial cerebral small vessel diseasepanel. Sources: Literature

22 Jun 2016, Gel status: 0

Created

Rhea Tan (University of Cambridge)

ABCC6 was created by rheatan