| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Vascular Malformations_Germline v1.3 | GPAA1 | Bryony Thompson Marked gene: GPAA1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vascular Malformations_Germline v1.3 | GPAA1 | Bryony Thompson Gene: gpaa1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vascular Malformations_Germline v1.3 | GPAA1 | Bryony Thompson Classified gene: GPAA1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vascular Malformations_Germline v1.3 | GPAA1 | Bryony Thompson Gene: gpaa1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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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