Thoracic aortic aneurysm or dissection
Gene: HNRNPK
615580 Au-Kline syndrome - syndromic CTD including aortic root dilation and cardiac malformations.Created: 25 Mar 2019, 4:30 p.m.
Au et al 2018 Eur J Hum Genet 26:1272 PMID:29904177 summarise a total of 9 patients with de novo LoF variants in NHRNPK, one with a de novo missense variant and 3 with de novo large deletions including HNRNPK in Au-Kline syndrome (abstract only)Created: 25 Mar 2019, 4:27 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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
616580- Au-Kline syndrome
Publications
Source South West GLH was added to HNRNPK.
This proposed gene was validated and added to this panel
HNRNPK was added to Familial Thoracic Aortic Aneurysm Diseasepanel. Sources: Other