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| Vascular Malformations_Germline v1.2 | GPAA1 |
Bryony Thompson gene: GPAA1 was added gene: GPAA1 was added to Vascular Malformations_Germline. Sources: Literature Mode of inheritance for gene: GPAA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GPAA1 were set to 32533362 Phenotypes for gene: GPAA1 were set to Vascular anomalies Review for gene: GPAA1 was set to AMBER Added comment: A single family identified with a GPAA1 missense (c.968A > G; p.Asn323Ser) segregating in 4 affected individuals and not among 6 unaffected individuals. Also, supporting in vitro functional assays for the variant impacting function and a gpaa1-deficient zebrafish model displaying several types of developmental defects as well as vascular dysplasia. Sources: Literature |
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| Vascular Malformations_Germline v0.91 | BRAF | Zornitza Stark Marked gene: BRAF as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vascular Malformations_Germline v0.91 | BRAF | Zornitza Stark Gene: braf has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vascular Malformations_Germline v0.12 | BRAF | Bryony Thompson Classified gene: BRAF as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vascular Malformations_Germline v0.12 | BRAF | Bryony Thompson Gene: braf has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vascular Malformations_Germline v0.8 | BRAF | Bryony Thompson Classified gene: BRAF as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vascular Malformations_Germline v0.8 | BRAF | Bryony Thompson Added comment: Comment on list classification: Somatic activating mutations only are associated with vascular malformations. Not really suitable for a germline testing panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vascular Malformations_Germline v0.8 | BRAF | Bryony Thompson Gene: braf has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vascular Malformations_Germline v0.7 | BRAF |
Bryony Thompson gene: BRAF was added gene: BRAF was added to Vascular Malformations_RMH. Sources: Expert list somatic tags were added to gene: BRAF. Mode of inheritance for gene: BRAF was set to Other Publications for gene: BRAF were set to 29316280; 29461977; 30544177 Phenotypes for gene: BRAF were set to Sporadic vascular malformations Mode of pathogenicity for gene: BRAF 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: BRAF was set to GREEN Added comment: Somatic activating mutations in BRAF cause sporadic vascular malformations and have recently been identified in CNS arteriovenous malformations. Sources: Expert list |
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