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Mitochondrial disorders

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

2 reviews

Sarah Leigh (Genomics England Curator)

Comment on list classification: Promotion of this gene from red to green on this panel is appropriate, based on the review in the Undiagnosed metabolic disorders panel, including new publications
Created: 21 Mar 2017, 12:56 p.m.
Comment on mode of inheritance: mitochondrial
Created: 21 Mar 2017, 12:55 p.m.
Created: 21 Mar 2017, 12:55 p.m.

Panel version: 1.44

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

Created: 8 Feb 2016, 10:32 a.m.

Panel version: 0.37

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Expert
Phenotypes
  • Isolated complex I deficiency
  • Leigh syndrome due to mitochondrial complex I deficiency, 256000
OMIM
612392
Clinvar variants
Variants in NDUFAF6
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

28 Aug 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

Victorian Clinical Genetics Services was added to NDUFAF6. Panel: Mitochondrial disorders

21 Mar 2017, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

21 Mar 2017, Gel status: 1

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for NDUFAF6 was changed to BIALLELIC, autosomal or pseudoautosomal

21 Mar 2017, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for NDUFAF6 were set to 18614015;27623250;26741492

30 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

NDUFAF6 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen

30 Jun 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

NDUFAF6 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen

30 Jun 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

NDUFAF6 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen