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Limb disorders

Gene: HNRNPK

Amber List (moderate evidence)

HNRNPK (heterogeneous nuclear ribonucleoprotein K)
EnsemblGeneIds (GRCh38): ENSG00000165119
EnsemblGeneIds (GRCh37): ENSG00000165119
OMIM: 600712, Gene2Phenotype
HNRNPK is in 8 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

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

13 Aug 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

HNRNPK was created by Ellen McDonagh