Inherited white matter disorders
Gene: NUBPLEnsemblGeneIds (GRCh38): ENSG00000151413
EnsemblGeneIds (GRCh37): ENSG00000151413
OMIM: 613621, Gene2Phenotype
NUBPL is in 13 panels
2 reviews
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Gene rated green and diagnostic-grade by expert reviewer, confirmed DD gene for Mitochondrial complex I deficiency. Numerous compound heterozygous cases reported in OMIM, all with rs118161496 (NM_025152.2:c.815-27T>C) and another variant. It is not on the Minimum recommended gene list for broad spectrum genetic testing for single-nucleotide variants associated with leukodystrophies and genetic leukoencephalopathies reported in PMID: 25655951. Green gene in the Mitochondrial panel version 1.10.Created: 19 Aug 2016, 11:38 a.m.
Ian Berry (Leeds Genetics Laboratory)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
General Leukodystrophy & Mitochondrial Leukoencephalopathy
Publications
- Parikh et al. Molecular Genetics and Metabolism 114 (2015) 501_659
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Mitochondrial Leukoencephalopathy
- Mitochondrial complex I deficiency
- Tags
- OMIM
- 613621
- Clinvar variants
- Variants in NUBPL
- Penetrance
- Complete
- Panels with this gene
-
- Early onset or syndromic epilepsy
- Fetal anomalies
- Childhood onset dystonia, chorea or related movement disorder
- Paediatric or syndromic cardiomyopathy
- Mitochondrial disorder with complex I deficiency
- Mitochondrial disorders
- Likely inborn error of metabolism
- Undiagnosed metabolic disorders
- Intellectual disability
- DDG2P
- Inherited white matter disorders
- White matter disorders and cerebral calcification - narrow panel
- Possible mitochondrial disorder - nuclear genes
History Filter Activity
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)6th Oct 2016: Panel promoted to version 1 after expert review and input, further curation and clinical input.
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for NUBPL were set to Mitochondrial Leukoencephalopathy; Mitochondrial complex I deficiency
Set publications
Ellen McDonagh (Genomics England Curator)Publications for NUBPL were set to
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Created
Ian Berry (Leeds Genetics Laboratory)NUBPL was created by [email protected]
Added New Source
Ian Berry (Leeds Genetics Laboratory)NUBPL was added to Inherited white matter disorderspanel. Sources: Expert list