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Cardiomyopathy_Paediatric

Gene: NDUFAF6

Red List (low 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
  • MetBioNet
  • Expert Review Red
  • Victorian Clinical Genetics Services
  • NHS GMS
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 17, 612392
OMIM
612392
Clinvar variants
Variants in NDUFAF6
Penetrance
None
Panels with this gene

History Filter Activity

28 Jul 2020, Gel status: 1

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 Cardiomyopathy_Paediatric. Sources: NHS GMS,Victorian Clinical Genetics Services,Expert Review Red,MetBioNet Mode of inheritance for gene: NDUFAF6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFAF6 were set to Mitochondrial complex I deficiency, nuclear type 17, 612392