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| Rasopathy v0.112 | ISCA-37431-Loss |
Sarah Milton Region: ISCA-37431-Loss was added Region: ISCA-37431-Loss was added to Rasopathy. Sources: Expert Review Green,Expert list Mode of inheritance for Region: ISCA-37431-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for Region: ISCA-37431-Loss were set to 12660952; 14729829 Phenotypes for Region: ISCA-37431-Loss were set to Chromosome 17q11.2 deletion syndrome, MIM#613675; NF1 deletion syndrome |
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| Rasopathy v0.59 | NF1 | Zornitza Stark Marked gene: NF1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rasopathy v0.59 | NF1 | Zornitza Stark Gene: nf1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rasopathy v0.59 | NF1 | Zornitza Stark Phenotypes for gene: NF1 were changed from to Neurofibromatosis, type 1, MIM# 162200; Neurofibromatosis-Noonan syndrome, MIM# 601321 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rasopathy v0.58 | NF1 | Zornitza Stark Mode of inheritance for gene: NF1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rasopathy v0.57 | NF1 | Zornitza Stark reviewed gene: NF1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurofibromatosis, type 1, MIM# 162200, Neurofibromatosis-Noonan syndrome, MIM# 601321; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rasopathy v0.0 | NF1 |
Zornitza Stark gene: NF1 was added gene: NF1 was added to Rasopathy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: NF1 was set to Unknown |
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