Familial cerebral small vessel disease
Gene: COL4A1Comment when marking as ready: Associated with phenotype in G2P. Numerous variants reported in this phenotype.Created: 1 Jul 2016, 5:23 p.m.
Comment on list classification: Tier 1 gene for Cerebral Small Vessel Disorders in BRIDGE StudyCreated: 1 Jul 2016, 5:21 p.m.
Mutations in COL4A1 and COL4A2 are associated with a spectrum of conditions with both infantile and adult onset, previously described as separate conditions - autosomal dominant Type I Porencephaly, cerebral small vessel disease with haemorrhage, cerebral small vessel disease with Axenfeld-Rieger Anomaly, and Hereditary Angiopathy with Nephropathy, Aneurysms and muscle Cramps (HANAC syndrome).
Type IV collagen is an integral component for basement membranes. Missense mutations, often those resulting in the substitution of a glycine residue, alters the three-dimensional conformation of the alpha-1 chain inhibiting the formation and deposition of collagen heterotrimers in the basement membrane.
Created: 22 Jun 2016, 11:39 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cerebral Small Vessel Disease; stroke; migraine; intracerebral haemorrhage; Axenfeld-Rieger Anomaly; cognitive impairment; dementia; seizures; myopathy; infantile hemiparesis; developmental delay
Publications
Phenotypes for COL4A1 were set to Cerebral Small Vessel Disease; stroke; migraine; Axenfeld-Rieger Anomaly; cognitive impairment; dementia; seizures; myopathy; infantile hemiparesis; developmental delay; Porencephaly 1 175780; {Hemorrhage, intracerebral, susceptibility to} 614519
This gene has been classified as Green List (High Evidence).
Publications for COL4A1 were set to 21157337; 17696175; 16107487; 19949034; 1737982; 17938367
This gene has been classified as Green List (High Evidence).
COL4A1 was added to Familial cerebral small vessel diseasepanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN,Expert list
Phenotypes for COL4A1 were set to Cerebral small vessel disease; porencephaly; Axenfeld-Rieger anomaly; muscle cramps; nephropathy Brain small vessel disease with or without ocular anomalies 607595; Porencephaly 1 175780; {Hemorrhage, intracerebral, susceptibility to} 614519
COL4A1 was created by rheatan
COL4A1 was added to Familial cerebral small vessel diseasepanel. Sources: Literature