Cytopenia - NOT Fanconi anaemia
Gene: RRAS
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.Created: 15 Apr 2024, 3:06 p.m. | Last Modified: 15 Apr 2024, 3:06 p.m.
Panel Version: 3.30
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.Created: 15 Apr 2024, 3:04 p.m. | Last Modified: 15 Apr 2024, 3:04 p.m.
Panel Version: 3.30
Comment on phenotypes: RRAS-related atypical Noonan syndrome phenotype from Gen2PhenCreated: 15 Apr 2024, 1:50 p.m. | Last Modified: 15 Apr 2024, 1:50 p.m.
Panel Version: 3.30
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications
34935735 describes a new case and provides info from 3 cases from the literature with RASopathy AND pediatric MDS. Only de novo missense variants were found. Therefore, enough evidence for green rating.
Sources: LiteratureCreated: 21 Jan 2023, 5:28 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Pediatric Myelodysplastic Syndrome
Publications
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Tag Q2_24_promote_green tag was added to gene: RRAS.
Publications for gene: RRAS were set to 34935735
Phenotypes for gene: RRAS were changed from Pediatric Myelodysplastic Syndrome to RRAS-related atypical Noonan syndrome
Publications for gene: RRAS were set to PMID: 34935735
Gene: rras has been classified as Amber List (Moderate Evidence).
gene: RRAS was added gene: RRAS was added to Cytopenia - NOT Fanconi anaemia. Sources: Literature Mode of inheritance for gene: RRAS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RRAS were set to PMID: 34935735 Phenotypes for gene: RRAS were set to Pediatric Myelodysplastic Syndrome Penetrance for gene: RRAS were set to unknown Mode of pathogenicity for gene: RRAS 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: RRAS was set to GREEN