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Mitochondrial disorders

Gene: NDUFAF3

Green List (high evidence)
NDUFAF3 (NADH:ubiquinone oxidoreductase complex assembly factor 3)
EnsemblGeneIds (GRCh38): ENSG00000178057
EnsemblGeneIds (GRCh37): ENSG00000178057
OMIM: 612911, Gene2Phenotype
NDUFAF3 is in 12 panels

1 review

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

Created: 8 Feb 2016, 10:29 a.m.

Panel version: 0.37

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Expert
Phenotypes
  • Isolated complex I deficiency
  • Mitochondrial complex I deficiency, 252010
  • Mitochondrial Diseases
  • Mitochondrial Respiratory Chain Complex I Deficiency
OMIM
612911
Clinvar variants
Variants in NDUFAF3
Penetrance
Complete
Panels with this gene

History Filter Activity

28 Aug 2018, Gel status: 3

Added New Source

Sarah Leigh (Genomics England Curator)

Victorian Clinical Genetics Services was added to NDUFAF3. Panel: Mitochondrial disorders

30 Jun 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene NDUFAF3 was changed to BIALLELIC, autosomal or pseudoautosomal

30 Jun 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

NDUFAF3 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services

30 Jun 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene NDUFAF3 was changed to BIALLELIC, autosomal or pseudoautosomal

30 Jun 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

NDUFAF3 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services

30 Jun 2015, Gel status: 1

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene NDUFAF3 was changed to BIALLELIC, autosomal or pseudoautosomal

30 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

NDUFAF3 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services

30 Jun 2015, Gel status: 0

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene NDUFAF3 was changed to BIALLELIC, autosomal or pseudoautosomal

30 Jun 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

NDUFAF3 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services

30 Jun 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

NDUFAF3 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services