| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Thoracic aortic aneurysm or dissection (GMS) v0.56 | PLOD1 |
Ivone Leong Source Expert Review Green was added to PLOD1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Thoracic aortic aneurysm or dissection (GMS) v0.55 | PLOD1 | Kate Thomson reviewed gene: PLOD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.35 | PLOD1 | Ivone Leong reviewed gene: PLOD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.34 | PLOD1 |
Ivone Leong Source NHS GMS was added to PLOD1. Source Expert Review Amber was added to PLOD1. Rating Changed from Red List (low evidence) to Amber List (moderate evidence) |
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| Thoracic aortic aneurysm or dissection (GMS) v0.30 | PLOD1 | James Eden changed review comment from: Appears to be a rare cause of aortic dilation secondary to bicuspid aortic valve; to: Appears to be a rare cause of aortic dilation secondary to bicuspid aortic valve. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.30 | PLOD1 | James Eden reviewed gene: PLOD1: Rating: AMBER; Mode of pathogenicity: None; Publications: 23525417; Phenotypes: Ehlers-Danlos syndrome, kyphoscoliotic type, 1 225400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.30 | PLOD1 | Matthew Edwards reviewed gene: PLOD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15666309, 25277362; Phenotypes: OMIM 225400 Ehlers-Danlos syndrome, kyphoscoliotic type, 1; Mode of inheritance: None; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.10 | PLOD1 | Ellen McDonagh Marked gene: PLOD1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.10 | PLOD1 | Ellen McDonagh Gene: plod1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.10 | PLOD1 | Ellen McDonagh Classified gene: PLOD1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.10 | PLOD1 | Ellen McDonagh Added comment: Comment on list classification: Demoted from Amber to Red, after confirmation with the GMS Cardiology specialist disease group in a meeting in July 2019 that EDS genes should not be included, except vascular EDS (the COL3A1 should remain Green). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.10 | PLOD1 | Ellen McDonagh Gene: plod1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.0 | PLOD1 |
Ellen McDonagh gene: PLOD1 was added gene: PLOD1 was added to GMS FTAAD placeholder panel. Sources: Expert Review Amber,London South GLH,South West GLH Mode of inheritance for gene: PLOD1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PLOD1 were set to kyphoscoliotic EDS; Ehlers-Danlos syndrome, type VI, 225400 |
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