Genetic Epilepsy

Gene: COL4A1

Green List (high evidence)

Seizures are secondary but described. Included for completeness.

Created: 5 Dec 2023, 11:02 a.m. | Last Modified: 5 Dec 2023, 11:03 a.m.

Panel Version: 0.1984

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

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

• 24628545
• 25719457
• 21625620
• 23225343
• 23065703
• 20818663
• 20301768

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