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Epileptic encephalopathy

Gene: HNRNPU

Green List (high evidence)

HNRNPU (heterogeneous nuclear ribonucleoprotein U)
EnsemblGeneIds (GRCh38): ENSG00000153187
EnsemblGeneIds (GRCh37): ENSG00000153187
OMIM: 602869, Gene2Phenotype
HNRNPU is in 6 panels

6 reviews

Louise Daugherty (Genomics England Curator)

Comment on publications: added missing publications
9 Aug 2018, 12:57 p.m.

Amy McTague (UCL Institute of Child Health)

Red List (low evidence)

Natalie Trump (NHS - Great Ormond Street Hospital)

Red List (low evidence)

Manju Kurian (UCL-Institute of Child Health)

Red List (low evidence)

Richard Scott (North Thames GMC/UCL)

Red List (low evidence)

Rebecca Foulger (Genomics England curator)

Comment on list classification: Updated rating from Red to Green: 3 unrelated cases supporting EE causation, confirmed DD-G2P gene for epileptic encephalopathies plus agreement from Arianna Tucci.
12 Jun 2017, 11:46 a.m.
In a 3.5-year-old boy with EIEE54, Hamdan et al. (2014, PMID:25356899) identified a de novo heterozygous nonsense mutation in the HNRNPU gene (Q171X).
11 May 2017, 2:16 p.m.
In a girl (patient 2012D06376) with EIEE54, de Kovel et al. (2016, PMID:27652284) identified 1bp insertion in HNRNPU gene resulting in a frameshift and premature termination (Val604fsTer24).
11 May 2017, 2:16 p.m.
In a 33-year-old man (patient T162) with early infantile epileptic encephalopathy-54 (EIEE54; 617391), Carvill et al. (2013, PMID:23708187) identified a heterozygous nonsense mutation (TYR805TER) in the HNRNPU gene.
11 May 2017, 2:15 p.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Epileptic encephalopathy
  • Epileptic encephalopathy, early infantile, 54, 617391
OMIM
602869
Clinvar variants
Variants in HNRNPU
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

9 Aug 2018, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: HNRNPU were set to 22190369; 25356899; 27652284; 23708187

5 Jul 2017, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for HNRNPU was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

12 Jun 2017, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Green List (High Evidence).

11 May 2017, Gel status: 1

Set publications

Rebecca Foulger (Genomics England curator)

Publications for HNRNPU were set to 22190369

11 May 2017, Gel status: 1

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for HNRNPU were set to Epileptic encephalopathy; Epileptic encephalopathy, early infantile, 54, 617391

13 Nov 2015, Gel status: 1

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

HNRNPU was added to Epileptic encephalopathypanel. Source: Expert Review Red

13 Nov 2015, Gel status: 1

gel status update

GEL ()

The Gel status was updated for this whole panel

1 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

HNRNPU was added to Epileptic encephalopathypanel. Sources: Radboud University Medical Center, Nijmegen