Familial cerebral small vessel disease
Gene: COL4A2Comment when marking as ready: Associated with phenotype in G2PCreated: 4 Jul 2016, 8:11 a.m.
Comment on list classification: Tier 1 gene for Cerebral Small Vessel Disorders in BRIDGE Study
Created: 4 Jul 2016, 8:10 a.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-2 chain inhibiting the formation and deposition of collagen heterotrimers in the basement membrane.
Created: 22 Jun 2016, 11:56 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
porencephaly; infantile heiparesis, intracerebral haemorrhages
Publications
This gene has been classified as Green List (High Evidence).
Phenotypes for COL4A2 were set to porencephaly; infantile heiparesis, intracerebral haemorrhages; Porencephaly 2 614483; {Hemorrhage, intracerebral, susceptibility to} 614519
Publications for COL4A2 were set to 22333902; 22209246; 22209247
This gene has been classified as Green List (High Evidence).
COL4A2 was added to Familial cerebral small vessel diseasepanel. Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
COL4A2 was added to Familial cerebral small vessel diseasepanel. Sources: Literature
COL4A2 was created by rheatan