Brain Calcification

Gene: IFIH1

Green List (high evidence)

Additional cases are found.
PMID 31898846 reports 6 individuals from 4 families who had IFIH1 variants and developed intracranial calcification.
PMID 29782060 reports 3 individuals from the same family who had an IFIH1 variant and developed extensive brain calcifications.

Created: 19 Apr 2023, 4:21 p.m. | Last Modified: 19 Apr 2023, 4:21 p.m.

Panel Version: 1.51

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Aicardi-Goutieres syndrome 7, MIM# 615846

Publications

• 20301648
• 31898846
• 29782060

Green List (high evidence)

Well established gene-disease association. Key clinical features include delayed psychomotor development, axial hypotonia, spasticity, and brain imaging changes, including basal ganglia calcification, cerebral atrophy, and deep white matter abnormalities. Laboratory evaluation shows increased alpha-interferon activity with upregulation of interferon signaling and interferon-stimulated gene expression. Some individuals may have normal early development followed by episodic neurologic regression.

Created: 10 Nov 2020, 9:19 a.m. | Last Modified: 10 Nov 2020, 9:19 a.m.

Panel Version: 0.49

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Aicardi-Goutieres syndrome 7, MIM#615846

Publications

• 24686847