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  3. HNRNPK
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Skeletal dysplasia

Gene: HNRNPK

Amber List (moderate 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)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Au-Kline syndrome MIM#616580

Publications

Created: 8 Nov 2021, 9:29 a.m.
Last Modified: 8 Nov 2021, 9:29 a.m.
Panel version: Imported from Mendeliome panel version 0.9655

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, 5:57 a.m. | Last Modified: 8 Nov 2021, 5:57 a.m.
Panel Version: 0.9638

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, 5:57 a.m.
Last Modified: 8 Nov 2021, 5:57 a.m.
Panel version: Imported from Mendeliome panel version 0.9638

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Other
  • Expert Review Amber
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • OMIM:616580
  • Orphanet:453499
  • Au-Kline syndrome:616580
  • Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to a point mutation
OMIM
600712
Clinvar variants
Variants in HNRNPK
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Dec 2019, Gel status: 2

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 Skeletal dysplasia. Sources: NHS GMS,Expert Review Amber,Other Mode of inheritance for gene: HNRNPK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: HNRNPK were set to 26173930; 26954065; 26638989 Phenotypes for gene: HNRNPK were set to OMIM:616580; Orphanet:453499; Au-Kline syndrome:616580; Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to a point mutation