| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Vascular Malformations_Somatic v1.5 | EPHB4 |
Bryony Thompson gene: EPHB4 was added gene: EPHB4 was added to Vascular Malformations_Somatic. Sources: Other Mode of inheritance for gene: EPHB4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: EPHB4 were set to 31300548; 30760892 Phenotypes for gene: EPHB4 were set to Capillary malformation-arteriovenous malformation Review for gene: EPHB4 was set to AMBER Added comment: A single CV-AVM case has been reported with mosaicism of an EPHB4 variant. Mosaicism has also been reported for the other CV-AVM gene, RASA1. Sources: Other |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vascular Malformations_Somatic v0.11 | RASA1 | Zornitza Stark Marked gene: RASA1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vascular Malformations_Somatic v0.11 | RASA1 | Zornitza Stark Gene: rasa1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vascular Malformations_Somatic v0.11 | RASA1 | Zornitza Stark Classified gene: RASA1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vascular Malformations_Somatic v0.11 | RASA1 | Zornitza Stark Gene: rasa1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vascular Malformations_Somatic v0.9 | RASA1 |
Chris Richmond gene: RASA1 was added gene: RASA1 was added to Vascular Malformations_Somatic. Sources: Expert Review Mode of inheritance for gene: RASA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RASA1 were set to 31300548; 30635911 Phenotypes for gene: RASA1 were set to Capillary malformation-arteriovenous malformation 1 (608354) Penetrance for gene: RASA1 were set to Incomplete Review for gene: RASA1 was set to GREEN Added comment: PMID: 31300548: "Four distinct mosaic RASA1 mutations, with an allele frequency ranging from 3% to 25%, were identified in four index patients with classical capillary malformation-arteriovenous malformation phenotype. Three mutations were known, one was novel. In one patient, a somatic second hit was also identified. One index case had three affected children, illustrating that the mosaicism was also present in the germline." PMID 30635911: "Both patients showed different nonsense RASA1 variants in mosaic, ranging from 7% to 21.5%, in blood samples and in the corresponding affected tissue sample from one of the patients. In conclusion, we report for the first time the presence of RASA1 constitutional mosaicism in CM-AVM. " Sources: Expert Review |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||