Cerebral vascular malformations
Gene: COL4A1
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
small vessel disease leading to periventricular leukoencephalopathy
Intraventricular hemorrhage with and without porencephaly
Intracranial aneurysm
Intracerebral hemorrhageCreated: 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
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
Gene: col4a1 has been classified as Green List (High Evidence).
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
Publications for gene: COL4A1 were set to
Mode of inheritance for gene: COL4A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene: col4a1 has been classified as Green List (High Evidence).
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}