Activity
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8 actions
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| Brain Calcification v1.64 | FAM20C | Zornitza Stark Marked gene: FAM20C as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.64 | FAM20C | Zornitza Stark Gene: fam20c has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.64 | FAM20C | Zornitza Stark Publications for gene: FAM20C were set to 27862258; 20825432; 36914045; 34259997; 32299476; 29341424 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.63 | FAM20C | Zornitza Stark Publications for gene: FAM20C were set to 27862258; 20825432 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.62 | FAM20C | Zornitza Stark Classified gene: FAM20C as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.62 | FAM20C | Zornitza Stark Gene: fam20c has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.61 | FAM20C | Zornitza Stark reviewed gene: FAM20C: Rating: GREEN; Mode of pathogenicity: None; Publications: 36914045, 34259997, 32299476, 29341424; Phenotypes: Raine syndrome, MIM# 259775; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.51 | FAM20C |
Yetong Chen gene: FAM20C was added gene: FAM20C was added to Brain Calcification. Sources: Expert list Mode of inheritance for gene: FAM20C was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FAM20C were set to 27862258; 20825432 Phenotypes for gene: FAM20C were set to Raine syndrome, MIM# 259775 Review for gene: FAM20C was set to RED Added comment: PMID 27862258 reports 2 patients with compounded FAM20C variants, who were from the same family, developed brain calcification. Co-segregation of brain calcification and the genotype of compounded FAM20C variants is reported. PMID 20825432 reports 2 patients with a homozygous FAM20C variant, who were from the same family, developed brain calcification. Co-segregation of brain calcification and the genotype of homozygous FAM20C variants is reported. Although co-segregation of phenotypes and genotypes is seen, the 4 individuals are related so more evidence is required. Sources: Expert list |
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