Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

DDG2P

Gene: HNRNPR

Green List (high evidence)

HNRNPR (heterogeneous nuclear ribonucleoprotein R)
EnsemblGeneIds (GRCh38): ENSG00000125944
EnsemblGeneIds (GRCh37): ENSG00000125944
OMIM: 607201, Gene2Phenotype
HNRNPR is in 3 panels

1 review

Rebecca Foulger (Genomics England curator)

I don't know

New gene:disorder association added to DDG2P, September 2019: INTELLECTUAL DISABILITY. Disease confidence rating in DDG2P: confirmed. DDG2P mutation consequence: loss of function. DDG2P allelic requirement: monoallelic
Created: 8 Oct 2019, 3:13 p.m. | Last Modified: 8 Oct 2019, 3:13 p.m.
Panel Version: 1.130

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
Phenotypes
  • INTELLECTUAL DISABILITY 616579
OMIM
607201
Clinvar variants
Variants in HNRNPR
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Oct 2019, Gel status: 3

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

Rebecca Foulger (Genomics England curator)

gene: HNRNPR was added gene: HNRNPR was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Green Mode of inheritance for gene: HNRNPR was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: HNRNPR were set to 31079900 Phenotypes for gene: HNRNPR were set to INTELLECTUAL DISABILITY 616579