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Inborn errors of metabolism

Gene: NDUFAF1

Green List (high evidence)

NDUFAF1 (NADH:ubiquinone oxidoreductase complex assembly factor 1)
EnsemblGeneIds (GRCh38): ENSG00000137806
EnsemblGeneIds (GRCh37): ENSG00000137806
OMIM: 606934, Gene2Phenotype
NDUFAF1 is in 11 panels

1 review

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
Phenotypes
  • Mitochondrial complex I deficiency, 252010
  • Mitochondrial Diseases
  • Isolated complex I deficiency
  • Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors)
  • Mitochondrial Respiratory Chain Complex I Deficiency
OMIM
606934
Clinvar variants
Variants in NDUFAF1
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 NDUFAF1. Source London North GLH was added to NDUFAF1.

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

Ellen McDonagh (Genomics England Curator)

Added phenotypes Mitochondrial complex I deficiency, 252010; Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex I Deficiency; Isolated complex I deficiency for gene: NDUFAF1

16 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: NDUFAF1 was added gene: NDUFAF1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: NDUFAF1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDUFAF1 were set to 27604308 Phenotypes for gene: NDUFAF1 were set to Mitochondrial complex I deficiency, 252010; Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex I Deficiency; Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors); Isolated complex I deficiency