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Fetal anomalies

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

3 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Au-Kline syndrome MIM#616580

Publications

Created: 8 Nov 2021, 9:28 a.m.
Last Modified: 8 Nov 2021, 9:28 a.m.
Panel version: 0.271

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

Caused by de novo variants.

Review of >20 individuals in GeneReviews:
- Brain anomalies have been identified in several individuals. The most common abnormalities were heterotopia and thinning of the corpus callosum.
- Congenital heart disease is present in approximately 75% of individuals with AKS
- Hydronephrosis is present in up to 75% of individuals
- Craniosynostosis is present in approximately 1/3 of individuals with AKS.
- More than half of individuals with AKS have scoliosis and congenital hip dysplasia
- Palate abnormalities, which include cleft palate, high-arched or narrow palate, and bifid uvula, are common.
Created: 8 Nov 2021, 12:52 a.m. | Last Modified: 8 Nov 2021, 12:52 a.m.
Panel Version: 0.143

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Au-Kline syndrome MIM#616580

Variants in this GENE are reported as part of current diagnostic practice

Created: 8 Nov 2021, 12:52 a.m.
Last Modified: 8 Nov 2021, 12:52 a.m.
Panel version: 0.143

Sue White (Victorian Clinical Genetics Services)

Green List (high evidence)

case presentation of patient and literature review shows patients can present with hydrops
Sources: Other
Created: 24 Jan 2020, 12:30 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Variants in this GENE are reported as part of current diagnostic practice

Created: 24 Jan 2020, 12:30 a.m.

Panel version: Imported from Hydrops fetalis panel version 0.106

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Other
Phenotypes
  • Au-Kline syndrome, MIM#616580
OMIM
600712
Clinvar variants
Variants in HNRNPK
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Nov 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

8 Nov 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

8 Nov 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: HNRNPK was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

24 Oct 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: HNRNPK was added gene: HNRNPK was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: HNRNPK was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: HNRNPK were set to 30998304; 26173930; 29904177; 26954065; 28771707 Phenotypes for gene: HNRNPK were set to Au-Kline syndrome, 616580