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RASopathies v1.81 | RRAS | Sarah Leigh Classified gene: RRAS as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
RASopathies v1.81 | RRAS | Sarah Leigh Gene: rras has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
RASopathies v1.80 | RRAS | Sarah Leigh Tag Q2_24_promote_green was removed from gene: RRAS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
RASopathies v1.80 | RRAS | Sarah Leigh Tag Q2_24_promote_green tag was added to gene: RRAS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
RASopathies v1.80 | RRAS | Sarah Leigh Publications for gene: RRAS were set to 24705357 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
RASopathies v1.79 | RRAS | Sarah Leigh edited their review of gene: RRAS: Added comment: RRAS variants have not associated with a phenotype in OMIM or MONDO, but Gen2Phen lists a strong association between RRAS variants and RRAS-related atypical Noonan syndrome. Three germline RRAS variants have been reported (PMID: 24705357; 32815881; 34935735), associated with a RASopathy, which includes myelodysplastic syndrome and contributes to leukaemogenesis.; Changed rating: GREEN; Changed publications to: 24705357, 32815881, 34935735 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
RASopathies v1.79 | RRAS | Sarah Leigh Added comment: Comment on phenotypes: Phenotype from Gen2Phen | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
RASopathies v1.79 | RRAS | Sarah Leigh Phenotypes for gene: RRAS were changed from Noonan syndrome to RRAS-related atypical Noonan syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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 v1.61 | RRAS | Arina Puzriakova Classified gene: RRAS as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
RASopathies v1.61 | RRAS |
Arina Puzriakova Added comment: Comment on list classification: Rated Amber as additional cases required to validate the causal association with the phenotype. Currently not associated with any phenotype in OMIM but a probable gene for Atypical Noonan Syndrome in G2P. |
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RASopathies v1.61 | RRAS | Arina Puzriakova Gene: rras has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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 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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RASopathies v1.55 | RRAS |
Zornitza Stark gene: RRAS was added gene: RRAS was added to RASopathies. Sources: Expert list Mode of inheritance for gene: RRAS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RRAS were set to 24705357 Phenotypes for gene: RRAS were set to Noonan syndrome Review for gene: RRAS was set to AMBER Added comment: Two individuals reported. One de novo variant, the inheritance of the other variant uncertain. Some supportive functional data. Rated as LIMITED by ClinGen. Sources: Expert list |