| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Vascular Malformations_Germline v0.93 | MAP3K3 | Zornitza Stark Marked gene: MAP3K3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vascular Malformations_Germline v0.93 | MAP3K3 | Zornitza Stark Gene: map3k3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vascular Malformations_Germline v0.26 | MAP3K3 | Bryony Thompson Classified gene: MAP3K3 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vascular Malformations_Germline v0.26 | MAP3K3 | Bryony Thompson Added comment: Comment on list classification: Somatic mutations are the cause of vascular malformations, thus this gene is not appropriate for a germline testing panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vascular Malformations_Germline v0.26 | MAP3K3 | Bryony Thompson Gene: map3k3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vascular Malformations_Germline v0.25 | MAP3K3 |
Bryony Thompson gene: MAP3K3 was added gene: MAP3K3 was added to Inherited Vascular Malformations. Sources: Expert list somatic tags were added to gene: MAP3K3. Mode of inheritance for gene: MAP3K3 was set to Other Publications for gene: MAP3K3 were set to 10700190; 25728774 Phenotypes for gene: MAP3K3 were set to Verrucous venous malformation Review for gene: MAP3K3 was set to GREEN Added comment: Somatic variants have been identified in 6 (out of 10) verrucous venous malformation specimens (and not in the germline). The authors suggest that the somatic mutations have a neomorphic or hypermorphic function. Sources: Expert list |
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