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| RASopathies v1.72 | RRAS2 | Ivone Leong Publications for gene: RRAS2 were set to 31130282 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| RASopathies v1.71 | RRAS2 | Ivone Leong Phenotypes for gene: RRAS2 were changed from Noonan syndrome 12, OMIM #618624 to Noonan syndrome 12, 618624 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| RASopathies v1.60 | RRAS2 | Arina Puzriakova Added comment: Comment on mode of pathogenicity: All variants reported increase activation of the MAPK cascade. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| RASopathies v1.60 | RRAS2 | Arina Puzriakova Mode of pathogenicity for gene: RRAS2 was changed from None to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| RASopathies v1.59 | RRAS2 | Arina Puzriakova Classified gene: RRAS2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| RASopathies v1.59 | RRAS2 | Arina Puzriakova Added comment: Comment on list classification: At least nine unrelated pedigrees with Noonan syndrome, associated with monoallelic variants in this gene. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| RASopathies v1.59 | RRAS2 | Arina Puzriakova Gene: rras2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| RASopathies v1.58 | RRAS2 | Arina Puzriakova reviewed gene: RRAS2: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 31130282, 31130285; Phenotypes: Noonan syndrome 12, 618624; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| RASopathies v1.55 | RRAS2 |
Zornitza Stark gene: RRAS2 was added gene: RRAS2 was added to RASopathies. Sources: Expert list Mode of inheritance for gene: RRAS2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RRAS2 were set to 31130282 Phenotypes for gene: RRAS2 were set to Noonan syndrome 12, OMIM #618624 Review for gene: RRAS2 was set to GREEN gene: RRAS2 was marked as current diagnostic Added comment: Six unrelated families reported Sources: Expert list |
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