Brain Calcification

Gene: COL4A1

Green List (high evidence)

In total, 20 patients with COL4A1 variants who developed brain calcification were reported.
PMID 22134833 reports 5 patients with different COL4A1 variants who developed brain calcification.
PMID 24372060 mentions a patient who has been reported by PMID 22134833 (case 3).
PMID 25719457 reports 2 unrelated patients with different COL4A1 variants who developed brain calcification.
PMID 23225343 reports 7 patients with different COL4A1 variants who developed brain calcification.
PMID 22932948 reports 3 patients with COL4A1 variants who developed brain calcification, and mentions 5 patients who have been reported by PMID 22134833.

Created: 29 Mar 2023, 11:07 p.m. | Last Modified: 29 Mar 2023, 11:07 p.m.

Panel Version: 1.38

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Brain small vessel disease with or without ocular anomalies, MIM#175780

Publications

• 24372060
• 22134833
• 25719457
• 23225343
• 22932948

Green List (high evidence)

Brain small vessel disease-1 is an autosomal dominant disorder with variable manifestations resulting from disruption of vascular basement membranes, particularly in the cerebral vasculature. The disturbed vasculature leads to cerebral degeneration, and brain imaging typically shows 'porencephaly,' hemosiderin deposition, calcifications, lacunar infarcts, enlarged ventricles, and leukoencephalopathy.

Created: 22 Dec 2020, 7:50 a.m. | Last Modified: 22 Dec 2020, 7:50 a.m.

Panel Version: 0.88

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Brain small vessel disease with or without ocular anomalies, MIM# 175780