Inherited white matter disorders
Gene: NUBPLComment 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.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
General Leukodystrophy & Mitochondrial Leukoencephalopathy
Publications
Variants in this GENE are reported as part of current diagnostic practice
6th Oct 2016: Panel promoted to version 1 after expert review and input, further curation and clinical input.
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Phenotypes for NUBPL were set to Mitochondrial Leukoencephalopathy; Mitochondrial complex I deficiency
Publications for NUBPL were set to
This gene has been classified as Amber List (Moderate Evidence).
NUBPL was created by [email protected]
NUBPL was added to Inherited white matter disorderspanel. Sources: Expert list