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Thoracic aortic aneurysm or dissection v1.90 PLOD1 Rebecca Whittington commented on gene: PLOD1: 225400 Kyphoscoliotic Ehlers-Danlos syndrome
Thoracic aortic aneurysm or dissection v1.89 PLOD1 Rebecca Whittington commented on gene: PLOD1: Abdalla et al 2015 Eur J Pediatr 174:105 PMID:25277362 characterised nonsense and a relatively commonly reported large in-frame duplication p.Glu326_Lys585dup (entire exons 10-16 of 19 exon gene) in Egyptian patients with Kyphoscoliotic EDS and found segregation with disease in 6 affected individuals from 4 families (abstract only)
Thoracic aortic aneurysm or dissection v1.88 PLOD1 Rebecca Whittington reviewed gene: PLOD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Thoracic aortic aneurysm or dissection v1.87 PLOD1 Ellen McDonagh Source South West GLH was added to PLOD1.
Thoracic aortic aneurysm or dissection v1.86 PLOD1 Ellen McDonagh reviewed gene: PLOD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Thoracic aortic aneurysm or dissection v1.85 PLOD1 Ellen McDonagh Source London South GLH was added to PLOD1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Thoracic aortic aneurysm or dissection PLOD1 Helen Brittain marked PLOD1 as ready
Thoracic aortic aneurysm or dissection PLOD1 Helen Brittain classified PLOD1 as green
Thoracic aortic aneurysm or dissection PLOD1 Helen Brittain reviewed PLOD1
Thoracic aortic aneurysm or dissection PLOD1 Rebecca Foulger added PLOD1 to panel
Thoracic aortic aneurysm or dissection PLOD1 Rebecca Foulger reviewed PLOD1