Inherited white matter disorders
Gene: NDUFS1Comment on list classification: Gene rated green and diagnostic-grade by expert reviewer, confirmed DD gene for MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY, more than 3 unrelated cases with different variants reported in OMIM. 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, 1:10 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
Phenotypes for gene: NDUFS1 were changed from Mitochondrial complex I disorders; Mitochondrial complex I deficiency; Mitochondrial Leukoencephalopathy; General Leukodystrophy & Mitochondrial Leukoencephalopathy; MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY to Mitochondrial complex I deficiency, nuclear type 5, OMIM:618226
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).
Phenotypes for NDUFS1 were set to Mitochondrial complex I disorders; Mitochondrial complex I deficiency; Mitochondrial Leukoencephalopathy; General Leukodystrophy & Mitochondrial Leukoencephalopathy;MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY
Phenotypes for NDUFS1 were set to Mitochondrial complex I disorders;Mitochondrial complex I deficiency;Mitochondrial Leukoencephalopathy;General Leukodystrophy & Mitochondrial Leukoencephalopathy
Publications for NDUFS1 were set to 25655951
This gene has been classified as Green List (High Evidence).
This gene has been removed from the panel.
NDUFS1 was created by [email protected]
NDUFS1 was added to Inherited white matter disorderspanel. Sources: Expert list