Familial cerebral small vessel disease
Gene: ABCC6EnsemblGeneIds (GRCh38): ENSG00000091262
EnsemblGeneIds (GRCh37): ENSG00000091262
OMIM: 603234, Gene2Phenotype
ABCC6 is in 12 panels
2 reviews
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Numerous LOF variants reported for this phenotypeCreated: 1 Jul 2016, 4:20 p.m.
Comment on list classification: Tier 1 gene in BRIDGE StudyCreated: 1 Jul 2016, 4:18 p.m.
Rhea Tan (University of Cambridge)
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
-
- Thoracic aortic aneurysm or dissection (GMS)
- Intellectual disability
- Thoracic aortic aneurysm or dissection
- Ehlers Danlos syndrome with a likely monogenic cause
- DDG2P
- Familial cerebral small vessel disease
- Retinal disorders
- Pseudoxanthoma elasticum
- Cerebral vascular malformations
- Generalised arterial calcification in infancy
- Fetal anomalies
- Rare genetic inflammatory skin disorders
History Filter Activity
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for ABCC6 were set to Pseudoxanthoma elasticum 264800 AR; Pseudoxanthoma elasticum, forme fruste 177850 AD
Set Mode of Inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for ABCC6 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Set publications
Sarah Leigh (Genomics England Curator)Publications for ABCC6 were set to 15825558; 17964712; 697322
Upload gene information
Sarah Leigh (Genomics England Curator)ABCC6 was added to Familial cerebral small vessel diseasepanel. Sources: Expert list
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for ABCC6 were set to Pseudoxanthoma elasticum 264800
Set Mode of Inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for ABCC6 was changed to BIALLELIC, autosomal or pseudoautosomal
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for ABCC6 were set to Pseudoxanthoma elasticum
Added New Source
Rhea Tan (University of Cambridge)ABCC6 was added to Familial cerebral small vessel diseasepanel. Sources: Literature
Created
Rhea Tan (University of Cambridge)ABCC6 was created by rheatan