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  3. HNRNPK
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Craniosynostosis

Gene: HNRNPK

Green List (high evidence)
HNRNPK (heterogeneous nuclear ribonucleoprotein K)
EnsemblGeneIds (GRCh38): ENSG00000165119
EnsemblGeneIds (GRCh37): ENSG00000165119
OMIM: 600712, Gene2Phenotype
HNRNPK is in 13 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Phenotypes
Au-Kline syndrome, MIM#616580

Created: 23 Oct 2020, 5:01 a.m.
Last Modified: 23 Oct 2020, 5:01 a.m.
Panel version: 1.1

Tiong Tan (Victorian Clinical Genetics Services)

Green List (high evidence)

Comment on list classification: Amazing reviewer
Created: 3 Jun 2020, 12:18 p.m. | Last Modified: 3 Jun 2020, 12:18 p.m.
Panel Version: 0.32
Multiple unrelated individuals with Au-Kline (approx 1/3 have craniosynostosis - sagittal, metric, lambdoid)
Sources: Literature
Created: 3 Jun 2020, 12:17 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Au-Kline syndrome

Publications

Created: 3 Jun 2020, 12:17 p.m.

Panel version: 0.31

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Au-Kline syndrome, MIM#616580
OMIM
600712
Clinvar variants
Variants in HNRNPK
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

23 Oct 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: HNRNPK were changed from Au-Kline syndrome to Au-Kline syndrome, MIM#616580

3 Jun 2020, Gel status: 3

Entity classified by Genomics England curator

Tiong Tan (Victorian Clinical Genetics Services)

Gene: hnrnpk has been classified as Green List (High Evidence).

3 Jun 2020, Gel status: 3

Entity classified by Genomics England curator

Tiong Tan (Victorian Clinical Genetics Services)

Gene: hnrnpk has been classified as Green List (High Evidence).

3 Jun 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance

Tiong Tan (Victorian Clinical Genetics Services)

gene: HNRNPK was added gene: HNRNPK was added to Craniosynostosis. Sources: Literature Mode of inheritance for gene: HNRNPK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: HNRNPK were set to 26173930; 26954065; 29904177 Phenotypes for gene: HNRNPK were set to Au-Kline syndrome Penetrance for gene: HNRNPK were set to Complete Review for gene: HNRNPK was set to GREEN