Congenital Heart Defect
Gene: HNRNPKEnsemblGeneIds (GRCh38): ENSG00000165119
EnsemblGeneIds (GRCh37): ENSG00000165119
OMIM: 600712, Gene2Phenotype
HNRNPK is in 13 panels
1 review
Ain Roesley (Victorian Clinical Genetics Services)
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.
Sources: LiteratureCreated: 8 Nov 2021, 5:52 a.m.
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
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
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: hnrnpk has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: hnrnpk has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes, Set penetrance
Ain Roesley (Victorian Clinical Genetics Services)gene: HNRNPK was added gene: HNRNPK was added to Congenital Heart Defect. Sources: Literature Mode of inheritance for gene: HNRNPK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: HNRNPK were set to Au-Kline syndrome MIM#616580 Penetrance for gene: HNRNPK were set to Complete Review for gene: HNRNPK was set to GREEN gene: HNRNPK was marked as current diagnostic