Familial cerebral small vessel disease
Gene: COL3A1

COL3A1 (collagen type III alpha 1 chain)
EnsemblGeneIds (GRCh38): ENSG00000168542
EnsemblGeneIds (GRCh37): ENSG00000168542
OMIM: 120180, Gene2Phenotype
COL3A1 is in 10 panels

3 reviews

Eleanor Williams (Genomics England Curator)

Comment on mode of inheritance: Biallelic variants are associated with Polymicrogyria with or without vascular-type EDS OMIM:618343, therefore the mode of inheritance has been changed to Both mono and biallelic
Created: 28 Sep 2022, 10:21 p.m. | Last Modified: 28 Sep 2022, 10:21 p.m.

Panel Version: 1.14

Created: 28 Sep 2022, 10:21 p.m.
Last Modified: 28 Sep 2022, 10:21 p.m.
Panel version: 1.14

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.

Created: 1 Jul 2016, 5:14 p.m.

Panel version: 0.39

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

PMID: 8526472

Created: 23 Jun 2016, 12:52 p.m.

Panel version: 0.21

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

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

8526472

Panels with this gene

History Filter Activity

28 Sep 2022, Gel status: 3

Set mode of inheritance

Eleanor Williams (Genomics England Curator)

Mode of inheritance for gene: COL3A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

4 Jul 2016, Gel status: 4