| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Thoracic aortic aneurysm or dissection (GMS) v0.57 | ABL1 | Ivone Leong Classified gene: ABL1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.57 | ABL1 | Ivone Leong Gene: abl1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.55 | ABL1 | Kate Thomson reviewed gene: ABL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.37 | ABL1 | Ivone Leong Publications for gene: ABL1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.35 | ABL1 | Ivone Leong reviewed gene: ABL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.30 | ABL1 | James Eden reviewed gene: ABL1: Rating: AMBER; Mode of pathogenicity: None; Publications: 28288113; Phenotypes: Congenital heart defects and skeletal malformations syndrome, 617602; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.0 | ABL1 |
Ellen McDonagh gene: ABL1 was added gene: ABL1 was added to GMS FTAAD placeholder panel. Sources: Expert Review Amber,South West GLH Mode of inheritance for gene: ABL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ABL1 were set to Failure to thrive in infancy (HP:0001531); Generalized joint laxity (HP:0002761); Ascending aortic dilation (HP:0004970); Congenital finger flexion contractures (HP:0005879); Hypospadias (HP:0000047); Pectus excavatum (HP:0000767); Congenital heart defects and skeletal malformations syndrome, 617602; Scoliosis (HP:0002650); Congenital septal defect (HP:0004760) |
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