Brain Calcification

Gene: TSC2

Green List (high evidence)

The association between brain calcification and Tuberous sclerosis is well-established.
PMID 21175459 reports a patient with a TSC2 variant (the nucleic acid is not reported) who developed a nodular lesion with numerous brain calcification and dystrophic calcifications in the cortex adjacent to the nodule.
PMID 30628968 reports a patient with a TSC2 variant (c.1000delG, p.Va1334fs) who had multiple nodules and calcification in the left frontal lobe, bilateral basal ganglia, and periventricular area.
PMID 19258292 reports a patient with a TSC2 variant (c.1378G>A, p.Ala460Thr) who had calcifications in the left cerebellar hemisphere. The sizes of calcifications increased over time.
PMID 28786492: Of 58 patients with TSC with cerebellar lesions, 41 carried TSC2 variants and 51 had brain calcification. However, the number of patients with TSC2 variants who developed brain calcification is not explicitly stated.

Created: 8 May 2023, 1:24 a.m. | Last Modified: 8 May 2023, 1:24 a.m.

Panel Version: 1.83

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Tuberous sclerosis-2, MIM# 613254

Publications

• 21175459
• 30628968
• 19258292
• 28786492

Green List (high evidence)

Intracranial calcification is a recognised feature.

Created: 24 Jul 2020, 8:46 a.m. | Last Modified: 24 Jul 2020, 8:46 a.m.

Panel Version: 0.24

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Tuberous sclerosis 2, MIM# 613254