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Inborn errors of metabolism

Gene: NDUFAF2

Green List (high evidence)

NDUFAF2 (NADH:ubiquinone oxidoreductase complex assembly factor 2)
EnsemblGeneIds (GRCh38): ENSG00000164182
EnsemblGeneIds (GRCh37): ENSG00000164182
OMIM: 609653, Gene2Phenotype
NDUFAF2 is in 13 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

Comment on mode of inheritance: Confirmed on G2P and OMIM.
Created: 8 Feb 2016, 2:41 p.m.
Comment on list classification: Expert reviewer suggests the gene should be promoted to green, and it is a probable DD gene for Leigh syndrome.
Created: 8 Feb 2016, 2:39 p.m.

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
Phenotypes
  • Mitochondrial complex I deficiency, 252010
  • Isolated complex I deficiency
  • Leigh syndrome, 256000
  • Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors)
  • Mitochondrial Respiratory Chain Complex I Deficiency
OMIM
609653
Clinvar variants
Variants in NDUFAF2
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 NDUFAF2. Source London North GLH was added to NDUFAF2.

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 Mitochondrial complex I deficiency, 252010; Mitochondrial Respiratory Chain Complex I Deficiency; Leigh syndrome, 256000; Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors); Isolated complex I deficiency for gene: NDUFAF2 Publications for gene NDUFAF2 were changed from to 27604308

16 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: NDUFAF2 was added gene: NDUFAF2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: NDUFAF2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFAF2 were set to Mitochondrial complex I deficiency, 252010; Mitochondrial Respiratory Chain Complex I Deficiency; Leigh syndrome, 256000; Isolated complex I deficiency