Familial cerebral small vessel disease

Gene: COL4A2

Green List (high evidence)

COL4A2 (collagen type IV alpha 2 chain)
EnsemblGeneIds (GRCh38): ENSG00000134871
EnsemblGeneIds (GRCh37): ENSG00000134871
OMIM: 120090, Gene2Phenotype
COL4A2 is in 11 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in G2P
Created: 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.

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-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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • porencephaly
  • infantile heiparesis, intracerebral haemorrhages
  • Porencephaly 2 614483
  • {Hemorrhage, intracerebral, susceptibility to} 614519
OMIM
120090
Clinvar variants
Variants in COL4A2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

4 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).

4 Jul 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for COL4A2 were set to porencephaly; infantile heiparesis, intracerebral haemorrhages; Porencephaly 2 614483; {Hemorrhage, intracerebral, susceptibility to} 614519

4 Jul 2016, Gel status: 4

Set publications

Sarah Leigh (Genomics England Curator)

Publications for COL4A2 were set to 22333902; 22209246; 22209247

4 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).

4 Jul 2016, Gel status: 0

Upload gene information

Sarah Leigh (Genomics England Curator)

COL4A2 was added to Familial cerebral small vessel diseasepanel. Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN

22 Jun 2016, Gel status: 0

Added New Source

Rhea Tan (University of Cambridge)

COL4A2 was added to Familial cerebral small vessel diseasepanel. Sources: Literature

22 Jun 2016, Gel status: 0

Created

Rhea Tan (University of Cambridge)

COL4A2 was created by rheatan