Familial cerebral small vessel disease

Gene: COL3A1

Green List (high evidence)

COL3A1 (collagen type III alpha 1 chain)
EnsemblGeneIds (GRCh38): ENSG00000168542
EnsemblGeneIds (GRCh37): ENSG00000168542
OMIM: 120180, Gene2Phenotype
COL3A1 is in 11 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype on G2P; Numerous variants reported for this phenotype
Created: 1 Jul 2016, 5:16 p.m.
Comment on list classification: Tier 1 gene for Cerebral Small Vessel Disorders in BRIDGE Study
Created: 1 Jul 2016, 5:14 p.m.

Rhea Tan (University of Cambridge)

Green List (high evidence)

Ehlers Danlos Type IV is a cause of young-onset ischemic and haemorrhagic strokes, arising due to vertebral and carotid dissections, intracerebral aneurysms of large- and medium-sized arteries, cavernous sinus fistulas or aneurysms.
Created: 23 Jun 2016, 12:52 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
stroke; ischemic stroke; haemorrhagic stroke; dissection; vertebral artery dissection;

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
  • UKGTN
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • stroke
  • ischemic stroke
  • haemorrhagic stroke
  • dissection
  • vertebral artery dissection
  • Ehlers-Danlos syndrome, type IV 130050
OMIM
120180
Clinvar variants
Variants in COL3A1
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 COL3A1 were set to stroke; ischemic stroke; haemorrhagic stroke; dissection; vertebral artery dissection; Ehlers-Danlos syndrome, type IV 130050

4 Jul 2016, Gel status: 4

Set publications

Sarah Leigh (Genomics England Curator)

Publications for COL3A1 were set to 8526472

1 Jul 2016, Gel status: 4

Upload gene information

Sarah Leigh (Genomics England Curator)

COL3A1 was added to Familial cerebral small vessel diseasepanel. Sources: Expert list

1 Jul 2016, Gel status: 4

Upload gene information

Sarah Leigh (Genomics England Curator)

COL3A1 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

Upload gene information

Sarah Leigh (Genomics England Curator)

COL3A1 was added to Familial cerebral small vessel diseasepanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN

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 COL3A1 were set to Stroke; ischemic stroke; haemorrhagic stroke; dissection; vertebral artery dissection; Ehlers-Danlos syndrome, type IV 130050

23 Jun 2016, Gel status: 0

Created

Rhea Tan (University of Cambridge)

COL3A1 was created by rheatan

23 Jun 2016, Gel status: 0

Added New Source

Rhea Tan (University of Cambridge)

COL3A1 was added to Familial cerebral small vessel diseasepanel. Sources: Literature