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| Vascular Malformations_Germline v0.93 | MAP2K1 | Zornitza Stark Marked gene: MAP2K1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vascular Malformations_Germline v0.93 | MAP2K1 | Zornitza Stark Gene: map2k1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vascular Malformations_Germline v0.24 | MAP2K1 | Bryony Thompson Classified gene: MAP2K1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vascular Malformations_Germline v0.24 | MAP2K1 | Bryony Thompson Added comment: Comment on list classification: Somatic activating mutations are the cause of vascular malformations, thus it is not appropriate to include this gene on a germline testing panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vascular Malformations_Germline v0.24 | MAP2K1 | Bryony Thompson Gene: map2k1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vascular Malformations_Germline v0.23 | MAP2K1 |
Bryony Thompson gene: MAP2K1 was added gene: MAP2K1 was added to Inherited Vascular Malformations. Sources: Expert list somatic tags were added to gene: MAP2K1. Mode of inheritance for gene: MAP2K1 was set to Other Publications for gene: MAP2K1 were set to 31486960; 29461977; 28190454 Phenotypes for gene: MAP2K1 were set to Intramuscular fast-flow vascular anomaly; Arteriovenous malformation Mode of pathogenicity for gene: MAP2K1 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: MAP2K1 was set to GREEN Added comment: Somatic activating mutations in this gene cause sporadic vascular malformations. Sources: Expert list |
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