Cerebral vascular malformations

Gene: COL4A1

Red List (low evidence)

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

1 review

Alice Gardham (Genomics England)

Red List (low evidence)

Comment on list classification: small vessel disease rather than cerebral vascular malformations
Created: 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 malformations
Created: 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

History Filter Activity

29 Nov 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to COL4A1.

29 Nov 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to COL4A1.

19 Dec 2016, Gel status: 1

panel promoted to version 1

Alice Gardham (Genomics England)

Promoted to version 1 on the 19th December 2016

14 Dec 2016, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Red List (Low Evidence).

12 Dec 2016, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Red List (Low Evidence).

12 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

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

12 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

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

9 Dec 2016, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

COL4A1 was added to Cerebrovascular disorderspanel. Source: Other

9 Dec 2016, Gel status: 2

Set Mode of Inheritance, Added New Source

Ellen McDonagh (Genomics England Curator)

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

9 Dec 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

COL4A1 was created by ellenmcdonagh

9 Dec 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

COL4A1 was added to Cerebrovascular disorderspanel. Sources: Radboud University Medical Center, Nijmegen