| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Brain Calcification v1.61 | SUOX | Zornitza Stark Marked gene: SUOX as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.61 | SUOX | Zornitza Stark Gene: suox has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.61 | SUOX | Zornitza Stark Classified gene: SUOX as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.61 | SUOX | Zornitza Stark Gene: suox has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.55 | SUOX |
Yetong Chen gene: SUOX was added gene: SUOX was added to Brain Calcification. Sources: Expert list Mode of inheritance for gene: SUOX was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SUOX were set to 27289259; 23250141; 24384336 Phenotypes for gene: SUOX were set to Sulfite oxidase deficiency, MIM# 272300 Review for gene: SUOX was set to GREEN Added comment: PMID 27289259 reports 2 unrelated patients with different homozygous SUOX variants (c.713G > A(p.G238Q*) and c.884G > A (p.G295E)) who had thalami calcifications. PMID 23250141 reports a patient with homozygous SUOX variant (c.1232-1233 delTG) who had faint calcification in the thalami. PMID 24384336 reports a patient (patient 2) with homozygous SUOX variant (c.1232-1233delT) who had faint calcification in both thalami. Sources: Expert list |
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