Early onset or syndromic epilepsy

Gene: HNRNPU

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

• 27652284

Comment on publications: added missing publications

Created: 9 Aug 2018, 12:59 p.m.

Red List (low evidence)

Red List (low evidence)

Red List (low evidence)

Red List (low evidence)

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.