Hydrops fetalis
Gene: HNRNPK
HNRNPK (heterogeneous nuclear ribonucleoprotein K)
EnsemblGeneIds (GRCh38): ENSG00000165119
EnsemblGeneIds (GRCh37): ENSG00000165119
OMIM: 600712, Gene2Phenotype
HNRNPK is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000165119
EnsemblGeneIds (GRCh37): ENSG00000165119
OMIM: 600712, Gene2Phenotype
HNRNPK is in 13 panels
1 review
Sue White (Victorian Clinical Genetics Services)
case presentation of patient and literature review shows patients can present with hydrops
Sources: OtherCreated: 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
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Other
- Phenotypes
-
- Au-Kline syndrome, MIM# 616580
- OMIM
- 600712
- Clinvar variants
- Variants in HNRNPK
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
24 Jan 2020, 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).
24 Jan 2020, Gel status: 3
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: HNRNPK were changed from to Au-Kline syndrome, MIM# 616580
24 Jan 2020, Gel status: 3
Entity classified by Genomics England curator
Sue White (Victorian Clinical Genetics Services)Gene: hnrnpk has been classified as Green List (High Evidence).
24 Jan 2020, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set penetrance
Sue White (Victorian Clinical Genetics Services)gene: HNRNPK was added gene: HNRNPK was added to Hydrops fetalis. Sources: Other Mode of inheritance for gene: HNRNPK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Penetrance for gene: HNRNPK were set to Complete Review for gene: HNRNPK was set to GREEN