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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 9 panels

1 review

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

Comment when marking as ready: Anna de Burca (Genomics England clinical team) confirmed that Green rating was correct for HNRNPK.
Created: 11 Jun 2019, 1:22 p.m.
Added HNRNPK to the Fetal anomalies panel as a Green gene based on the DDG2P Disease confidence rating of 'confirmed' for Au-Kline syndrome. There is sufficient evidence (>3 unrelated cases from PMIDs:26173930,26954065,28771707,29904177) supporting a link between HNRNPK and Au-Kline syndrome. Plus the phenotype includes structural anomalies and PMID:29904177 report a prenatal presentation.
Created: 9 May 2019, 3:40 p.m.
Au et al., 2018 (PMID:29904177) report prenatal presentation of Au-Kline syndrome: patient 9 presented prenatally with prune belly sequence, club feet, cystic kidneys associated with large cystic hygroma, pleural effusions and enlarged bladder. An additional 5 prenatal patients showed increased nuchal translucency and 5 patients had hydronephrosis. Congenital heart disease was reported for one patient prenatally. Agenesis of the corpus callosum was observed prenatally in one patient. Choroid plexus cysts, hyperechoic bowel, and ventriculomegaly have also been detected in ultrasound in single patients.
Created: 9 May 2019, 3:40 p.m.
Au-Kline syndrome is a multiple malformation syndrome associated with intellectual disability. Patients have facial dysmorphic features and frequently have skeletal and connective tissue anomalies, craniosynostosis, congenital heart malformations, and renal anomalies (summarised in PMID:29904177). Structural phenotypes reported in the literature include talipes and partial agenesis of corpus callosum.
Created: 9 May 2019, 3:38 p.m.
New gene:disorder association added to DDG2P on 02/05/2019: Au-Kline Syndrome. Disease confidence rating in DDG2P: confirmed. DDG2P mutation consequence: loss of function. DDG2P mode of inheritance: monoallelic.
Created: 9 May 2019, 3:36 p.m.
Created: 9 May 2019, 3:36 p.m.

Panel version: 0.318

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • DD-Gene2Phenotype
Phenotypes
  • Au-Kline syndrome, 616580
OMIM
600712
Clinvar variants
Variants in HNRNPK
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Jun 2019, Gel status: 3

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

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

13 May 2019, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

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

9 May 2019, Gel status: 4

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: HNRNPK were set to 29904177; 30998304

9 May 2019, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: HNRNPK was added gene: HNRNPK was added to Fetal anomalies. Sources: DD-Gene2Phenotype,Expert Review Green Mode of inheritance for gene: HNRNPK was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: HNRNPK were set to 29904177; 30998304 Phenotypes for gene: HNRNPK were set to Au-Kline Syndrome