Early onset or syndromic epilepsy
Gene: NUBPL
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: Alison Callaway and John Taylor. Suggested gene rating: Amber.Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189
better tested through the mito panel. Mitochondrial disorders can associated with seizures, but the evidence is not specifically implicated. There are reports of disease-causing variants being associated with complex I deficiency.Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex I deficiency, nuclear type 21, 618242
Publications
Comment when marking as ready: Sufficient cases associating NUBPL with Mitochondrial complex I deficiency but not sufficient cases with epilepsy/seizure phenotype to rate this gene green on this panel.Created: 14 Nov 2018, 2 p.m.
Comment on list classification: Keeping Amber as only 1 confirmed case of patient with epilepsyCreated: 14 Nov 2018, 1:57 p.m.
Associated with Mitochondrial complex I deficiency in OMIM and Gene2Phenotype. Sufficient cases associating NUBPL with Mitochondrial complex I deficiency but not sufficient cases with epilepsy/seizure phenotype. The patient described in PMID: 20818383 (Calvo et al. (2010)) had staring spells, possibly indicating absence seizures from age 2 but the EEG was normal. He was treated with sodium valproate and no definite seizures have occurred subsequently.
PMID: 23553477 Kevelam et al. (2013) report 6 patients from 5 unrelated families with complex I deficiency and a characteristic leukoencephalopathic pattern on brain MRI. The patients had biallelic mutations in the NUBPL gene. However only 1 showed epilepsy.Created: 14 Nov 2018, 1:55 p.m.
Seizures are part of the phenotype of this mitochondrial disorder.Created: 17 Aug 2018, 11:27 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex I deficiency, MIM#252010
Variants in this GENE are reported as part of current diagnostic practice
Source Wessex and West Midlands GLH was added to NUBPL.
Source NHS GMS was added to NUBPL.
Zornitza Stark: Seizures are part of the pheno
Gene: nubpl has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: NUBPL were changed from to Mitochondrial complex I deficiency 252010
Publications for gene: NUBPL were set to
Mode of inheritance for gene: NUBPL was changed from to BIALLELIC, autosomal or pseudoautosomal
Gene: nubpl has been classified as Amber List (Moderate Evidence).
Expert Review Amber was added to NUBPL. Panel: Genetic Epilepsy Syndromes
NUBPL was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services
NUBPL was created by Sarah Leigh