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Genetic epilepsy syndromes

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

7 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

AR HMG-CoA lysase defic - rare disorder with the cardinal manifestatons of metabolic acidosis, eleveated urinary organic acid metabolites, dicarboxylic aciduria, hepatomegaly and hyperammonemia. Presenting clinical signis include irritability, lethargy, coma and vomitting. Grunert et al, 2017 - review - collected clinical, biochemical and genetic data in 37 patients (35 families) from metabolic centres in Belgium, Germany, The Netherlands, Switzerland and Turkey. E[pileptic seizures occured in 50% according to table 2.
Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Publications

Louise Daugherty (Genomics England Curator)

Comment on publications: added missing publications
Created: 9 Aug 2018, 12:59 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)

I don't know

Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Green.
Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189
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.
Created: 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).
Created: 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).
Created: 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.
Created: 11 May 2017, 2:15 p.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Radboud University Medical Center, Nijmegen
  • Expert Review Green
Phenotypes
  • Epileptic encephalopathy
  • Epileptic encephalopathy, early infantile, 54, 617391
OMIM
602869
Clinvar variants
Variants in HNRNPU
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to HNRNPU.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to HNRNPU.

11 Dec 2018, Gel status: 4

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Rebecca Foulger: In a 33-year-old man (patient

9 Aug 2018, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

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

25 Jun 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

Victorian Clinical Genetics Services was added to HNRNPU. Panel: Genetic Epilepsy Syndromes

4 Apr 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

HNRNPU was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review Green,Radboud University Medical Center, Nijmegen

4 Apr 2018, Gel status: 4

Created

Sarah Leigh (Genomics England Curator)

HNRNPU was created by Sarah Leigh