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Date	Panel	Item	Activity
Filter activities 4 actions
25 Mar 2019	Thoracic aortic aneurysm or dissection v1.90	ZNF469	Rebecca Whittington commented on gene: ZNF469: 229200 Brittle cornea syndrome 1 - marfaniod CTD with mitral valve prolapse
25 Mar 2019	Thoracic aortic aneurysm or dissection v1.89	ZNF469	Rebecca Whittington commented on gene: ZNF469: Rohrbach et al 2013 Mol Genet Metab 109:289 PMID:23680354 describe two homozygous and one heterozygous patient - all variants are truncating. One patient has mitral valve prolapse and mild mitral regurgitation with a normal aortic root diameter. Variants also identified in 15 affected members of 10 families from a previously described cohort (Al-Hussain et al 2004 Am J Med Genet A 124A:28 PMID:14679583 - no mention of any cardiac phenotype).
25 Mar 2019	Thoracic aortic aneurysm or dissection v1.88	ZNF469	Rebecca Whittington reviewed gene: ZNF469: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
21 Feb 2019	Thoracic aortic aneurysm or dissection v1.87	ZNF469	Ellen McDonagh Source South West GLH was added to ZNF469. Mode of inheritance for gene ZNF469 was changed from to BIALLELIC, autosomal or pseudoautosomal