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| Fetal anomalies v1.425 | RASA2 | Zornitza Stark Phenotypes for gene: RASA2 were changed from Noonan syndrome to Noonan syndrome MONDO:0018997, RASA2-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.424 | RASA2 | Zornitza Stark reviewed gene: RASA2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Noonan syndrome MONDO:0018997, RASA2-related; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3916 | RASA2 | Zornitza Stark Marked gene: RASA2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3916 | RASA2 | Zornitza Stark Gene: rasa2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3916 | RASA2 | Zornitza Stark Classified gene: RASA2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3916 | RASA2 | Zornitza Stark Gene: rasa2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3908 | RASA2 |
Krithika Murali gene: RASA2 was added gene: RASA2 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: RASA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RASA2 were set to 25049390 Phenotypes for gene: RASA2 were set to Noonan syndrome Review for gene: RASA2 was set to AMBER Added comment: No OMIM gene disease association. Borderline red-amber gene. No new publications since last PanelApp review in 2020 -- One previous paper from 2014 described 3 patients with Noonan Syndrome and novel variants in RASA2. No segregation or functional data on the specific variants was provided. One of the three patients had an alternative variant in a different candidate gene. A more recent review using ClinGen criteria (2018) only found the disease association to have limited evidence, with no further patients identified since the 2014 paper, and none since. Sources: Literature |
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