Cerebral vascular malformations
Gene: COL4A1
Comment on list classification: small vessel disease rather than cerebral vascular malformationsCreated: 12 Dec 2016, 12:40 p.m.
GeneReviews: small-vessel brain disease is manifest as diffuse periventricular leukoencephalopathy, lacunar infarcts, microhemorrhage, dilated perivascular spaces, and deep intracerebral hemorrhages. Clinically, small-vessel brain disease manifests as infantile hemiparesis, seizures, single or recurrent hemorrhagic stroke, ischemic stroke, and isolated migraine with aura. May be dominant negative mutations
ie small vessel disease rather than cerebral vascular malformationsCreated: 12 Dec 2016, 12:39 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Brain small vessel disease with or without ocular anomalies 607595, Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps 611773, Hemorrhage, intracerebral, susceptibility to 614519
Publications
Mode of pathogenicity
Other
Source Yorkshire and North East GLH was added to COL4A1.
Source NHS GMS was added to COL4A1.
Promoted to version 1 on the 19th December 2016
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
COL4A1 was added to Cerebrovascular disorderspanel. Source: Other
COL4A1 was added to Cerebrovascular disorderspanel. Source: Illumina TruGenome Clinical Sequencing Services Model of inheritance for gene COL4A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
COL4A1 was created by ellenmcdonagh
COL4A1 was added to Cerebrovascular disorderspanel. Sources: Radboud University Medical Center, Nijmegen