Activity
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8 actions
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| Fetal hydrops v1.91 | RASA1 | Achchuthan Shanmugasundram Classified gene: RASA1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal hydrops v1.91 | RASA1 | Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available (~25 unrelated cases) for the promotion of this gene to green rating on this panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal hydrops v1.91 | RASA1 | Achchuthan Shanmugasundram Gene: rasa1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal hydrops v1.90 | RASA1 | Achchuthan Shanmugasundram Added comment: Comment on phenotypes: OMIM phenotype last accessed on 10 October 2025. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal hydrops v1.90 | RASA1 | Achchuthan Shanmugasundram Phenotypes for gene: RASA1 were changed from capillary malformation-arteriovenous malformation-1 (CMAVM1, OMIM # 608354) to Capillary malformation-arteriovenous malformation 1, OMIM:608354; capillary malformation-arteriovenous malformation 1, MONDO:0020783 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal hydrops v1.89 | RASA1 | Achchuthan Shanmugasundram reviewed gene: RASA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 36980822; Phenotypes: Capillary malformation-arteriovenous malformation 1, OMIM:608354, capillary malformation-arteriovenous malformation 1, MONDO:0020783; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal hydrops v1.89 | RASA1 | Karen Stals reviewed gene: RASA1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID:36980822; Phenotypes: hydrops, chylothorax, Capillary malformation-arteriovenous malformation 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal hydrops v1.88 | RASA1 |
Miel Theunis gene: RASA1 was added gene: RASA1 was added to Fetal hydrops. Sources: Literature Mode of inheritance for gene: RASA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RASA1 were set to 36980822; 33608416; 24038909 Phenotypes for gene: RASA1 were set to capillary malformation-arteriovenous malformation-1 (CMAVM1, OMIM # 608354) Penetrance for gene: RASA1 were set to Incomplete Mode of pathogenicity for gene: RASA1 was set to Other Review for gene: RASA1 was set to GREEN gene: RASA1 was marked as current diagnostic Added comment: It has been clearly demonstrated that RASA1-related CM-AVM is caused by pLoF and missense variants as well as whole gene deletions and can incorporate lymphatic malformations and that these can present at the fetal stage with chylothorax, ascites, NIHF, and increased nuchal translucency. I indicate a reduced penetrance, as the presence of this disorder can be missed entirely in affected parents due to a very variable expressivity. As such, caution is warranted when trio data is being filtered. Sources: Literature |
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