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| Brain Calcification v1.58 | STN1 | Zornitza Stark Publications for gene: STN1 were set to 27432940; 32627942 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.55 | STN1 | Yetong Chen reviewed gene: STN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 34110109; Phenotypes: Cerebroretinal microangiopathy with calcifications and cysts 2, MIM# 617341; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v0.46 | STN1 | Zornitza Stark Publications for gene: STN1 were set to 27432940 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v0.45 | STN1 | Zornitza Stark Classified gene: STN1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v0.45 | STN1 | Zornitza Stark Gene: stn1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v0.44 | STN1 | Zornitza Stark edited their review of gene: STN1: Added comment: Third unrelated family reported, promoted to Green.; Changed rating: GREEN; Changed publications: 27432940, 32627942; Changed phenotypes: Cerebroretinal microangiopathy with calcifications and cysts 2, MIM# 617341 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v0.12 | STN1 | Zornitza Stark Marked gene: STN1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v0.12 | STN1 | Zornitza Stark Gene: stn1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v0.12 | STN1 | Zornitza Stark Classified gene: STN1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v0.12 | STN1 | Zornitza Stark Gene: stn1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v0.11 | STN1 |
Zornitza Stark 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 Added comment: 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 |
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