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Mackenzie's Mission_Reproductive Carrier Screening

Gene: NDUFAF6

Green List (high evidence)

NDUFAF6 (NADH:ubiquinone oxidoreductase complex assembly factor 6)
EnsemblGeneIds (GRCh38): ENSG00000156170
EnsemblGeneIds (GRCh37): ENSG00000156170
OMIM: 612392, Gene2Phenotype
NDUFAF6 is in 9 panels

0 reviews

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Leigh syndrome due to mitochondrial complex I deficiency, 256000 (3)
OMIM
612392
Clinvar variants
Variants in NDUFAF6
Penetrance
None
Panels with this gene

History Filter Activity

19 Apr 2020, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: NDUFAF6 was added gene: NDUFAF6 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: NDUFAF6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFAF6 were set to Leigh syndrome due to mitochondrial complex I deficiency, 256000 (3)