Inherited white matter disorders

Gene: NUBPL

Green List (high evidence)

NUBPL (nucleotide binding protein like)
EnsemblGeneIds (GRCh38): ENSG00000151413
EnsemblGeneIds (GRCh37): ENSG00000151413
OMIM: 613621, Gene2Phenotype
NUBPL is in 14 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)

Green List (high evidence)

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

History Filter Activity

6 Oct 2016, Gel status: 4

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.

6 Oct 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

6 Oct 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

19 Aug 2016, Gel status: 2

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for NUBPL were set to Mitochondrial Leukoencephalopathy; Mitochondrial complex I deficiency

19 Aug 2016, Gel status: 2

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for NUBPL were set to

19 Aug 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

4 Aug 2016, Gel status: 0

Created

Ian Berry (Leeds Genetics Laboratory)

NUBPL was created by [email protected]

4 Aug 2016, Gel status: 0

Added New Source

Ian Berry (Leeds Genetics Laboratory)

NUBPL was added to Inherited white matter disorderspanel. Sources: Expert list