Inherited white matter disorders
Gene: NDUFS7Comment 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 Genetic leukoencephalopathies: mitochondrial disorders. Green gene in the Mitochondrial panel version 1.10 and the ID panel 1.2.Created: 18 Aug 2016, 3:31 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).
Phenotypes for NDUFS7 were set to Mitochondrial Leukoencephalopathy; Mitochondrial respiratory chain complex I deficiency; General Leukodystrophy & Mitochondrial Leukoencephalopathy; Genetic leukoencephalopathies: mitochondrial disorders;Leigh syndrome
Phenotypes for NDUFS7 were set to Mitochondrial Leukoencephalopathy;Mitochondrial respiratory chain complex I deficiency;General Leukodystrophy & Mitochondrial Leukoencephalopathy;Genetic leukoencephalopathies: mitochondrial disorders
Publications for NDUFS7 were set to 25655951
This gene has been classified as Green List (High Evidence).
NDUFS7 was added to Inherited white matter disorderspanel. Sources: Expert list
NDUFS7 was created by [email protected]