Cerebral vascular malformations

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 23 panels

3 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Generally small vessel disease, which is not pertinent to this panel. However, can also cause intracranial aneurysms.
Created: 15 Jun 2022, 9:09 p.m. | Last Modified: 15 Jun 2022, 9:09 p.m.
Panel Version: 0.27

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, MIM# 611773; Brain small vessel disease with or without ocular anomalies, MIM# 175780

Nicola Fearn (Royal Children's Hospital)

Green List (high evidence)

small vessel disease leading to periventricular leukoencephalopathy
Intraventricular hemorrhage with and without porencephaly
Intracranial aneurysm
Intracerebral hemorrhage
Created: 10 Jun 2022, 7:54 a.m. | Last Modified: 10 Jun 2022, 7:54 a.m.
Panel Version: 0.27

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Publications

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

Genereviews PMID: 20301768

Variants associated with hereditary angiopathy, nephropathy, aneurysms, and muscle cramps (i.e., HANAC syndrome) are localized in exons 24 and 25, affecting glycine residues.

Whereas all but one pathogenic variant responsible for more severe brain disease, including porencephaly and small-vessel brain disease, are mostly distributed through exons 25 to 51.
Created: 3 May 2022, 11:57 p.m. | Last Modified: 3 May 2022, 11:57 p.m.
Panel Version: 0.13662

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps MIM#611773; Brain small vessel disease with or without ocular anomalies MIM#175780; Microangiopathy and leukoencephalopathy, pontine, autosomal dominant MIM#618564

Publications

Variants in this GENE are reported as part of current diagnostic practice

History Filter Activity

15 Jun 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: col4a1 has been classified as Green List (High Evidence).

15 Jun 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: COL4A1 were changed from {Hemorrhage, intracerebral, susceptibility to}, 614519; Brain small vessel disease with or without ocular anomalies; Brain Small Vessel Disease with Hemorrhage; {Hemorrhage, intracerebral, susceptibility to} to Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, MIM# 611773; Brain small vessel disease with or without ocular anomalies, MIM# 175780

15 Jun 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: COL4A1 were set to

15 Jun 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: COL4A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

15 Jun 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: col4a1 has been classified as Green List (High Evidence).

18 May 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: COL4A1 was added gene: COL4A1 was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: COL4A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: COL4A1 were set to {Hemorrhage, intracerebral, susceptibility to}, 614519; Brain small vessel disease with or without ocular anomalies; Brain Small Vessel Disease with Hemorrhage; {Hemorrhage, intracerebral, susceptibility to}