Epileptic encephalopathy
Gene: HNRNPUComment on publications: added missing publicationsCreated: 9 Aug 2018, 12:57 p.m.
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.
Publications for gene: HNRNPU were set to 22190369; 25356899; 27652284; 23708187
Mode of inheritance for HNRNPU was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
This gene has been classified as Green List (High Evidence).
Publications for HNRNPU were set to 22190369
Phenotypes for HNRNPU were set to Epileptic encephalopathy; Epileptic encephalopathy, early infantile, 54, 617391
The Gel status was updated for this whole panel
HNRNPU was added to Epileptic encephalopathypanel. Source: Expert Review Red
The Gel status was updated for this whole panel
HNRNPU was added to Epileptic encephalopathypanel. Sources: Radboud University Medical Center, Nijmegen