Brain Calcification

Gene: SLC20A2

Green List (high evidence)

Additional cases are reported.
PMID 35850697 reports 6 patients from the same family with primary familial brain calcification. A reported SLC20A2 variant (c.1723G > T, p.(Glu575*)) was identified in the family. Co-segregation of brain calcification and the SLC20A2 variant was observed.
PMID 34025715 reports 7 patients with brain calcifications. 5 of them were from the same family harbouring the SLC20A2 variable (c.806delC), revealing brain calcifications in multiple regions. Co-segregation of SLC20A2 and brain calcification was observed in this family. The rest are 2 unrelated patients with different SLC20A2 variants (c.1154delG and c.1154delG) who developed bilateral symmetric calcification.

Created: 27 Apr 2023, 7:52 a.m. | Last Modified: 27 Apr 2023, 7:52 a.m.

Panel Version: 1.51

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Basal ganglia calcification, idiopathic, 1, MIM# 213600

Publications

• 28162874
• 31267306
• 35850697
• 34025715

Green List (high evidence)

PMID: 34267336 reported a 55 yo female born from healthy consanguineous parents.
- At 20 yo, she was diagnosed with basal ganglia clacification. No endocrine or metabolic disorders related to brain calcifications were found.
- At 28, she developed a psychotic disorder including delirium consistent with paranoia or delusional disorder that improved with aripiprazole.
- At 40s, she started with motor clumsiness, balance disturbance, and severe dysarthria. In recent years, asymmetric Parkinsonism was observed.
- Homozygous missense p.Arg71Cys was identified in the proband.

Created: 1 Nov 2021, 4:42 a.m. | Last Modified: 1 Nov 2021, 4:42 a.m.

Panel Version: 1.12

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Basal ganglia calcification MIM#213600

Publications

• PMID: 34267336

Green List (high evidence)

Over 50 families reported. Affected individuals can either be asymptomatic or show a wide spectrum of neuropsychiatric symptoms, including parkinsonism, dystonia, tremor, ataxia, dementia, psychosis, seizures, and chronic headache.

Created: 10 Sep 2020, 4:24 a.m. | Last Modified: 10 Sep 2020, 4:24 a.m.

Panel Version: 0.34

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Basal ganglia calcification, idiopathic, 1, MIM# 213600

Publications

• 22327515
• 23334463