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| Intellectual disability syndromic and non-syndromic v0.5184 | RRAS2 | Elena Savva Classified gene: RRAS2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5184 | RRAS2 | Elena Savva Gene: rras2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5183 | RRAS2 | Elena Savva Marked gene: RRAS2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5183 | RRAS2 | Elena Savva Gene: rras2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5183 | RRAS2 |
Elena Savva gene: RRAS2 was added gene: RRAS2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature Mode of inheritance for gene: RRAS2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RRAS2 were set to PMID: 31130282; 31130285 Phenotypes for gene: RRAS2 were set to Noonan syndrome 12 MIM#618624 Mode of pathogenicity for gene: RRAS2 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Review for gene: RRAS2 was set to AMBER Added comment: Gene has an established GOF mechanism PMID: 31130282 - 3/9 individuals had mild learning difficulties or mild GDD PMID: 31130285 - 1/3 individuals had mild ID, 1/3 had severe ID, 1/3 normal Sources: Literature |
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