Familial cerebral small vessel disease
Gene: COL3A1Comment 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 biallelicCreated: 28 Sep 2022, 10:21 p.m. | Last Modified: 28 Sep 2022, 10:21 p.m.
Panel Version: 1.14
Comment when marking as ready: Associated with phenotype on G2P; Numerous variants reported for this phenotypeCreated: 1 Jul 2016, 5:16 p.m.
Comment on list classification: Tier 1 gene for Cerebral Small Vessel Disorders in BRIDGE StudyCreated: 1 Jul 2016, 5:14 p.m.
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
Mode of inheritance for gene: COL3A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for COL3A1 were set to stroke; ischemic stroke; haemorrhagic stroke; dissection; vertebral artery dissection; Ehlers-Danlos syndrome, type IV 130050
Publications for COL3A1 were set to 8526472
COL3A1 was added to Familial cerebral small vessel diseasepanel. Sources: Expert list
COL3A1 was added to Familial cerebral small vessel diseasepanel. Sources: Expert list
This gene has been classified as Green List (High Evidence).
COL3A1 was added to Familial cerebral small vessel diseasepanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
This gene has been classified as Green List (High Evidence).
Phenotypes for COL3A1 were set to Stroke; ischemic stroke; haemorrhagic stroke; dissection; vertebral artery dissection; Ehlers-Danlos syndrome, type IV 130050
COL3A1 was added to Familial cerebral small vessel diseasepanel. Sources: Literature
COL3A1 was created by rheatan