Thoracic aortic aneurysm or dissection

Gene: HNRNPK

Red List (low evidence)

HNRNPK (heterogeneous nuclear ribonucleoprotein K)
EnsemblGeneIds (GRCh38): ENSG00000165119
EnsemblGeneIds (GRCh37): ENSG00000165119
OMIM: 600712, Gene2Phenotype
HNRNPK is in 9 panels

4 reviews

Rebecca Whittington (South West GLH)

I don't know

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

Nick Camm (NHS)

Red List (low evidence)

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
616580- Au-Kline syndrome

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • South West GLH
OMIM
600712
Clinvar variants
Variants in HNRNPK
Penetrance
Complete
Mode of Pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Panels with this gene

History Filter Activity

21 Feb 2019, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

Source South West GLH was added to HNRNPK.

19 Feb 2016, Gel status: 0

Approved Gene

Caroline Wright (Genomics England Curator)

This proposed gene was validated and added to this panel

19 Oct 2015, Gel status: 0

Added New Source

Nick Camm (NHS)

HNRNPK was added to Familial Thoracic Aortic Aneurysm Diseasepanel. Sources: Other