Thoracic aortic aneurysm and dissection

Gene: ZNF469

Red List (low evidence)

ZNF469 (zinc finger protein 469)
EnsemblGeneIds (GRCh38): ENSG00000225614
EnsemblGeneIds (GRCh37): ENSG00000225614
OMIM: 612078, Gene2Phenotype
ZNF469 is in 6 panels

5 reviews

Ivone Leong (Genomics England Curator)

Red List (low evidence)

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

James Eden (Manchester)

Red List (low evidence)

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

Rebecca Whittington (South West GLH)

Red List (low evidence)

229200 Brittle cornea syndrome 1 - marfaniod CTD with mitral valve prolapse
Created: 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

Ellen McDonagh (Genomics England Curator)

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.

Matina Prapa (Genomics England Curator)

Red List (low evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
229200- Brittle cornea syndrome 1

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • South West GLH
  • South West GLH
OMIM
612078
Clinvar variants
Variants in ZNF469
Penetrance
None
Panels with this gene

History Filter Activity

18 Apr 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

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