Brain Calcification
Gene: STN1

STN1 (STN1, CST complex subunit)
EnsemblGeneIds (GRCh38): ENSG00000107960
EnsemblGeneIds (GRCh37): ENSG00000107960
OMIM: 613128, Gene2Phenotype
STN1 is in 6 panels

2 reviews

Yetong Chen (University of Melbourne)

Green List (high evidence)

An additional case is reported.
PMID 34110109 reports a case with compound heterozygous STN1 variants (c.894dup, p.(Asp299Argfs*58) and c.707T>C, p.(Leu236Pro)) who had brain calcification.
Created: 2 May 2023, 3:19 a.m. | Last Modified: 2 May 2023, 3:19 a.m.

Panel Version: 1.55

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cerebroretinal microangiopathy with calcifications and cysts 2, MIM# 617341

Publications

34110109

Created: 2 May 2023, 3:19 a.m.
Last Modified: 2 May 2023, 3:19 a.m.
Panel version: 1.55

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Third unrelated family reported, promoted to Green.
Created: 2 Nov 2020, 4:41 a.m. | Last Modified: 2 Nov 2020, 4:41 a.m.

Panel Version: 0.44

Two individuals from unrelated families described with a multisystem disorder characterized by premature aging, pancytopaenia, hypocellular bone marrow, osteopenia, liver fibrosis, and vascular telangiectasia resulting in gastrointestinal bleeding, as well as intracranial calcifications and leukodystrophy, resulting in spasticity, ataxia, or dystonia.
Sources: Expert list
Created: 14 Jan 2020, 11:17 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cerebroretinal microangiopathy with calcifications and cysts 2, MIM# 617341

Publications

Created: 14 Jan 2020, 11:17 p.m.

Panel version: 0.44

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Expert list

Phenotypes

Cerebroretinal microangiopathy with calcifications and cysts 2, MIM# 617341

OMIM

613128

Clinvar variants

Variants in STN1

Penetrance

None

Publications

Panels with this gene