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Molecular autopsy

Gene: NDUFA9

Red List (low evidence)
NDUFA9 (NADH:ubiquinone oxidoreductase subunit A9)
EnsemblGeneIds (GRCh38): ENSG00000139180
EnsemblGeneIds (GRCh37): ENSG00000139180
OMIM: 603834, Gene2Phenotype
NDUFA9 is in 11 panels

0 reviews

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Leigh syndrome due to mitochondrial complex I deficiency, 256000
  • Leigh syndrome due to mitochondrial complex I deficiency, 256000 -3
  • Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits)
  • Isolated complex I deficiency
OMIM
603834
Clinvar variants
Variants in NDUFA9
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Dec 2018, Gel status: 1

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Added phenotypes Leigh syndrome due to mitochondrial complex I deficiency, 256000; Leigh syndrome due to mitochondrial complex I deficiency, 256000 -3; Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Isolated complex I deficiency for gene: NDUFA9

20 Dec 2018, Gel status: 1

Set Phenotypes, Set publications

Ellen McDonagh (Genomics England Curator)

Added phenotypes Leigh syndrome due to mitochondrial complex I deficiency, 256000; Leigh syndrome due to mitochondrial complex I deficiency, 256000 -3; Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Isolated complex I deficiency for gene: NDUFA9 Publications for gene NDUFA9 were changed from to 27604308

20 Dec 2018, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: NDUFA9 was added gene: NDUFA9 was added to Molecular autopsy. Sources: Expert Review Red Mode of inheritance for gene: NDUFA9 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFA9 were set to Leigh syndrome due to mitochondrial complex I deficiency, 256000 -3; Isolated complex I deficiency