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  3. NDUFS7
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Leukodystrophy - paediatric

Gene: NDUFS7

Green List (high evidence)
NDUFS7 (NADH:ubiquinone oxidoreductase core subunit S7)
EnsemblGeneIds (GRCh38): ENSG00000115286
EnsemblGeneIds (GRCh37): ENSG00000115286
OMIM: 601825, Gene2Phenotype
NDUFS7 is in 12 panels

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Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
  • Mitochondrial respiratory chain complex I deficiency
  • Leigh syndrome
  • Genetic leukoencephalopathies: mitochondrial disorders
  • Mitochondrial Leukoencephalopathy
OMIM
601825
Clinvar variants
Variants in NDUFS7
Penetrance
None
Panels with this gene

History Filter Activity

30 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: NDUFS7 was added gene: NDUFS7 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: NDUFS7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFS7 were set to General Leukodystrophy & Mitochondrial Leukoencephalopathy; Mitochondrial respiratory chain complex I deficiency; Leigh syndrome; Genetic leukoencephalopathies: mitochondrial disorders; Mitochondrial Leukoencephalopathy