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Inborn errors of metabolism

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

3 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.

Louise Daugherty (NIHR BioResource - Rare Diseases Study (NIHRBR-RD), University of Cambridge & NHS Blood and Transplant)

Green List (high evidence)

PMID: 18614015 1 family (2 affecteds) , PMID:27623250 1 affected, PMID: 26741492 4 unrelated affecteds. Seven variants listed in OMIM . On Radboud MENDELIOME/MCA MITOCHONDRIAL DISORDERS panel
Created: 23 Feb 2017, 5:15 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Leigh syndrome due to mitochondrial complex I deficiency, 256000

Publications

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Leigh syndrome due to mitochondrial complex I deficiency, 256000
  • Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors)
  • Isolated complex I deficiency
OMIM
612392
Clinvar variants
Variants in NDUFAF6
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Feb 2019, Gel status: 4

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to NDUFAF6. Source London North GLH was added to NDUFAF6.

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Ellen McDonagh: Comment on mode of pathogenici

16 Dec 2018, Gel status: 4

Set Phenotypes, Set publications

Ellen McDonagh (Genomics England Curator)

Added phenotypes Leigh syndrome due to mitochondrial complex I deficiency, 256000; Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) for gene: NDUFAF6 Publications for gene NDUFAF6 were changed from 26741492; 18614015; 27623250 to 27604308

16 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: NDUFAF6 was added gene: NDUFAF6 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: NDUFAF6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDUFAF6 were set to 26741492; 18614015; 27623250 Phenotypes for gene: NDUFAF6 were set to Leigh syndrome due to mitochondrial complex I deficiency, 256000; Isolated complex I deficiency