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Mitochondrial disease

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

1 review

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 30642748
- total of 14 affecteds listed in this review
Created: 28 Oct 2020, midnight | Last Modified: 28 Oct 2020, midnight
Panel Version: 0.547

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex I deficiency, nuclear type 17 (MIM#618239)

Publications

Created: 28 Oct 2020, midnight
Last Modified: 28 Oct 2020, midnight
Panel version: 0.547

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 17 (MIM#618239)
OMIM
612392
Clinvar variants
Variants in NDUFAF6
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Oct 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ndufaf6 has been classified as Green List (High Evidence).

28 Oct 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: NDUFAF6 were changed from to Mitochondrial complex I deficiency, nuclear type 17 (MIM#618239)

28 Oct 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: NDUFAF6 were set to

28 Oct 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: NDUFAF6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: NDUFAF6 was added gene: NDUFAF6 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services Mode of inheritance for gene: NDUFAF6 was set to Unknown