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  3. NDUFS1
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Leukodystrophy - paediatric

Gene: NDUFS1

Green List (high evidence)
NDUFS1 (NADH:ubiquinone oxidoreductase core subunit S1)
EnsemblGeneIds (GRCh38): ENSG00000023228
EnsemblGeneIds (GRCh37): ENSG00000023228
OMIM: 157655, Gene2Phenotype
NDUFS1 is in 13 panels

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Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Mitochondrial complex I deficiency
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
  • Mitochondrial complex I disorders
  • MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY
  • Mitochondrial Leukoencephalopathy
OMIM
157655
Clinvar variants
Variants in NDUFS1
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: NDUFS1 was added gene: NDUFS1 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: NDUFS1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFS1 were set to Mitochondrial complex I deficiency; General Leukodystrophy & Mitochondrial Leukoencephalopathy; Mitochondrial complex I disorders; MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY; Mitochondrial Leukoencephalopathy