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  2. Thoracic aortic aneurysm or dissection
  3. HNRNPK
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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

Created: 25 Mar 2019, 4:24 p.m.

Panel version: 1.90

Nick Camm (NHS)

Red List (low evidence)

Created: 5 Nov 2017, 2:39 a.m.

Panel version: 0

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.
Created: 19 Feb 2016, 10:59 a.m.

Panel version: 0.22

Matina Prapa (Genomics England Curator)

Red List (low evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
616580- Au-Kline syndrome

Publications

Created: 14 Feb 2016, 3:34 p.m.

Panel version: 0.22

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