Familial cerebral small vessel disease

Gene: COL4A1

Green List (high evidence)

COL4A1 (collagen type IV alpha 1 chain)
EnsemblGeneIds (GRCh38): ENSG00000187498
EnsemblGeneIds (GRCh37): ENSG00000187498
OMIM: 120130, Gene2Phenotype
COL4A1 is in 27 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Comment 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 Study
Created: 1 Jul 2016, 5:21 p.m.

Rhea Tan (University of Cambridge)

Green List (high evidence)

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

History Filter Activity

4 Jul 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

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

1 Jul 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

1 Jul 2016, Gel status: 4

Set publications

Sarah Leigh (Genomics England Curator)

Publications for COL4A1 were set to 21157337; 17696175; 16107487; 19949034; 1737982; 17938367

1 Jul 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

1 Jul 2016, Gel status: 0

Upload gene information

Sarah Leigh (Genomics England Curator)

COL4A1 was added to Familial cerebral small vessel diseasepanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN,Expert list

1 Jul 2016, Gel status: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

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

22 Jun 2016, Gel status: 0

Created

Rhea Tan (University of Cambridge)

COL4A1 was created by rheatan

22 Jun 2016, Gel status: 0

Added New Source

Rhea Tan (University of Cambridge)

COL4A1 was added to Familial cerebral small vessel diseasepanel. Sources: Literature