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Mitochondrial disorders

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

2 reviews

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: 0.68

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

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

Panel version: 0.37

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Expert
Phenotypes
  • Isolated complex I deficiency
  • Mitochondrial complex 1 deficiency, 252010
  • Mitochondrial Diseases
OMIM
612360
Clinvar variants
Variants in NDUFAF5
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 NDUFAF5. Panel: Mitochondrial disorders

8 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

8 Feb 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for NDUFAF5 were set to Isolated complex I deficiency; Mitochondrial complex 1 deficiency, 252010; Mitochondrial Diseases

8 Feb 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for NDUFAF5 were set to PMID: 19542079; 18940309

8 Feb 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for NDUFAF5 was changed to BIALLELIC, autosomal or pseudoautosomal

8 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

30 Jun 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

NDUFAF5 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory

30 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

NDUFAF5 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory

30 Jun 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

NDUFAF5 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory

30 Jun 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

NDUFAF5 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory