Brain Calcification
Gene: STN1
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
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 listCreated: 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
Publications for gene: STN1 were set to 27432940; 32627942
Publications for gene: STN1 were set to 27432940
Gene: stn1 has been classified as Green List (High Evidence).
Gene: stn1 has been classified as Amber List (Moderate Evidence).
Gene: stn1 has been classified as Amber List (Moderate Evidence).
gene: STN1 was added gene: STN1 was added to Brain calcification_VCGS. Sources: Expert list Mode of inheritance for gene: STN1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: STN1 were set to 27432940 Phenotypes for gene: STN1 were set to Cerebroretinal microangiopathy with calcifications and cysts 2, MIM# 617341 Review for gene: STN1 was set to AMBER