Thoracic aortic aneurysm or dissection (GMS)
Gene: ZNF469
Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Red on this panel.Created: 18 Nov 2019, 4:33 p.m. | Last Modified: 18 Nov 2019, 4:33 p.m.
Panel Version: 0.35
Insufficient association with aortopathy.Created: 2 Oct 2019, 4:23 p.m. | Last Modified: 2 Oct 2019, 4:23 p.m.
Panel Version: 0.32
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Brittle cornea syndrome 1 229200
Publications
229200 Brittle cornea syndrome 1 - marfaniod CTD with mitral valve prolapseCreated: 25 Mar 2019, 4:30 p.m.
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).Created: 25 Mar 2019, 4:27 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Not on the Inherited Cardiac Condition Genes panel for Familial aortic anuerysm reported in: Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition Genes, Pua et al, Journal of Cardiovascular Translational Research, online Feb 2016 (doi:10.1007/s12265-016-9673-5). The panel contains disease-causing, putatively pathogenic, research and phenocopy genes.Created: 19 Feb 2016, 10:59 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
229200- Brittle cornea syndrome 1
Publications
gene: ZNF469 was added gene: ZNF469 was added to GMS FTAAD placeholder panel. Sources: South West GLH,Expert Review Red Mode of inheritance for gene: ZNF469 was set to BIALLELIC, autosomal or pseudoautosomal