Inherited white matter disorders
Gene: NDUFS2Comment on list classification: Gene rated green and diagnostic-grade by expert reviewer. 3 family reports with 3 different variants reported in OMIM from 1 study (PMID:11220739). A literature search found additional reports for cases with Leigh syndrome PMID: 23266820, 22036843, 20819849. 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, 2:47 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 NDUFS2 were set to Mitochondrial Leukoencephalopathy;Mitochondrial complex I disorders;Leigh syndrome;Leigh syndrome associated with mitochondrial complex I deficiency
Publications for NDUFS2 were set to 11220739; 23266820; 22036843; 20819849; 25655951
Publications for NDUFS2 were set to PMID:11220739;23266820;22036843;20819849;25655951
This gene has been classified as Green List (High Evidence).
NDUFS2 was created by [email protected]
NDUFS2 was added to Inherited white matter disorderspanel. Sources: Expert list