Limb disorders
Gene: HNRNPK

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

1 review

Ellen McDonagh (Genomics England Curator)

I don't know

PMID: 26173930 - one patient with postaxial polydactyly and overlapping toes. This gene is involved in limb development. Unsure whether there is currently enough evidence in patients of variants in this gene causing limb disorders.
Created: 7 Nov 2018, 1:26 p.m.

Phenotypes
Au-Kline syndrome 616580

Publications

Created: 7 Nov 2018, 1:26 p.m.

Panel version: 0.270

Details

Sources

Expert Review Amber
Victorian Clinical Genetics Services

Phenotypes

Au-Kline syndrome 616580
Polydactyly

OMIM

600712

Clinvar variants

Variants in HNRNPK

Penetrance

None

Publications

Panels with this gene

History Filter Activity

11 Dec 2018, Gel status: 2

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Ellen McDonagh: PMID: 26173930 - one patient w

7 Nov 2018, Gel status: 2

Added New Source, Set Phenotypes, Set publications, Status Update

Eleanor Williams (Genomics England Curator)

Source Expert Review Amber was added to HNRNPK. Added phenotypes Au-Kline syndrome 616580 for gene: HNRNPK Publications for gene HNRNPK were changed from to 26173930; 19477957 Rating Changed from Red List (low evidence) to Amber List (moderate evidence)

13 Aug 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

HNRNPK was added to Limb disorders panel. Sources: Victorian Clinical Genetics Services