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  3. NDUFAF5
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Possible mitochondrial disorder - nuclear genes

Gene: NDUFAF5

Green List (high evidence)
NDUFAF5 (NADH:ubiquinone oxidoreductase complex assembly factor 5)
EnsemblGeneIds (GRCh38): ENSG00000101247
EnsemblGeneIds (GRCh37): ENSG00000101247
OMIM: 612360, Gene2Phenotype
NDUFAF5 is in 10 panels

3 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.
Created: 4 Feb 2019, 1:36 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex I deficiency, nuclear type 16, 616238

Created: 4 Feb 2019, 1:36 p.m.

Panel version: 0.5

Ellen McDonagh (Genomics England Curator)

Comment on mode of inheritance: PMID: 19542079 and PMID: 18940309 both report homozygous mutations in this gene.
Created: 8 Feb 2016, 2:48 p.m.
Comment on list classification: Reviews suggest this should be promoted from amber to green.
Created: 8 Feb 2016, 2:44 p.m.
Created: 8 Feb 2016, 2:44 p.m.

Panel version: Imported from Mitochondrial disorders panel version 0.68

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

Created: 8 Feb 2016, 10:30 a.m.

Panel version: Imported from Mitochondrial disorders panel version 0.37

History Filter Activity

4 Feb 2019, Gel status: 4

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

Ivone Leong (Genomics England Curator)

gene: NDUFAF5 was added gene: NDUFAF5 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: NDUFAF5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFAF5 were set to Mitochondrial complex I deficiency, nuclear type 16, 616238