Inherited white matter disorders
Gene: NDUFAF1Comment on list classification: Gene rated green and diagnostic-grade by expert reviewer. 2 compound heterozygotes (4 different variants) from 2 studies have been reported in OMIM for Mitochondrial complex I disorders. An additional compound heterozygous (c.278A > G; c.247G > A) case in a patient with leukodystrophy associated with mitochondrial complex I deficiency was identified in a literature search (PMID: 24963768). 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 for Mitochondrial complex I disorders. Green gene in the Mitochondrial panel version 1.10.
Created: 16 Aug 2016, 12:54 p.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).
This gene has been classified as Amber List (Moderate Evidence).
Publications for NDUFAF1 were set to 16218961;24963768;25655951;17557076;21931170
This gene has been removed from the panel.
NDUFAF1 was added to Inherited white matter disorderspanel. Sources: Expert list
NDUFAF1 was created by [email protected]