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| Rasopathy v0.36 | BRAF | Zornitza Stark edited their review of gene: BRAF: Changed mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rasopathy v0.36 | BRAF | Zornitza Stark Marked gene: BRAF as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rasopathy v0.36 | BRAF | Zornitza Stark Gene: braf has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rasopathy v0.36 | BRAF | Zornitza Stark Phenotypes for gene: BRAF were changed from to Noonan syndrome 7, MIM# 613706; Cardiofaciocutaneous syndrome, MIM# 115150 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rasopathy v0.35 | BRAF | Zornitza Stark Publications for gene: BRAF were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rasopathy v0.34 | BRAF | Zornitza Stark Mode of inheritance for gene: BRAF was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rasopathy v0.33 | BRAF | Zornitza Stark reviewed gene: BRAF: Rating: GREEN; Mode of pathogenicity: None; Publications: 19206169, 18042262; Phenotypes: Noonan syndrome 7, MIM# 613706, Cardiofaciocutaneous syndrome, MIM# 115150; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rasopathy v0.18 | A2ML1 | Zornitza Stark changed review comment from: Three unrelated individuals reported with de novo missense variants in this gene, zebrafish model.; to: Four unrelated individuals reported with de novo missense variants in this gene, zebrafish model. However, p.Arg802His is present in 168 heterozygotes in gnomad and one homozygote; p.Arg802Leu is also present in 168 heterozygotes, 1 homozygote; and p.Arg592Leu is present in 105 heterozygotes. Rated as DISPUTED by ClinGen. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rasopathy v0.0 | BRAF |
Zornitza Stark gene: BRAF was added gene: BRAF was added to Rasopathy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: BRAF was set to Unknown |
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