Genes in panel
STRs in panel
Prev Next

Genetic epilepsy syndromes

Gene: NUBPL

Amber List (moderate evidence)

NUBPL (nucleotide binding protein like)
EnsemblGeneIds (GRCh38): ENSG00000151413
EnsemblGeneIds (GRCh37): ENSG00000151413
OMIM: 613621, Gene2Phenotype
NUBPL is in 13 panels

4 reviews

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: 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

Tracy Lester (Genetics laboratory, Oxford UK)

I don't know

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

Eleanor Williams (Genomics England Curator)

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 epilepsy
Created: 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.

Zornitza Stark (Australian Genomics)

Green List (high evidence)

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

History Filter Activity

6 Aug 2019, Gel status: 2

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to NUBPL.

6 Aug 2019, Gel status: 2

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to NUBPL.

11 Dec 2018, Gel status: 2

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Zornitza Stark: Seizures are part of the pheno

14 Nov 2018, Gel status: 2

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: nubpl has been classified as Amber List (Moderate Evidence).

14 Nov 2018, Gel status: 2

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: NUBPL were changed from to Mitochondrial complex I deficiency 252010

14 Nov 2018, Gel status: 2

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: NUBPL were set to

14 Nov 2018, Gel status: 2

Set mode of inheritance

Eleanor Williams (Genomics England Curator)

Mode of inheritance for gene: NUBPL was changed from to BIALLELIC, autosomal or pseudoautosomal

14 Nov 2018, Gel status: 2

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: nubpl has been classified as Amber List (Moderate Evidence).

25 Jun 2018, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

Expert Review Amber was added to NUBPL. Panel: Genetic Epilepsy Syndromes

25 Jun 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

NUBPL was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services

25 Jun 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

NUBPL was created by Sarah Leigh