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Inborn errors of metabolism

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 11 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.

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 1 deficiency, 252010
  • Mitochondrial Diseases
  • Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors)
  • Isolated complex I deficiency
OMIM
612360
Clinvar variants
Variants in NDUFAF5
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 NDUFAF5. Source London North GLH was added to NDUFAF5.

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 1 deficiency, 252010; Mitochondrial Diseases; Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors); Isolated complex I deficiency for gene: NDUFAF5 Publications for gene NDUFAF5 were changed from 18940309; PMID: 19542079 to 27604308

16 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: NDUFAF5 was added gene: NDUFAF5 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: NDUFAF5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDUFAF5 were set to 18940309; PMID: 19542079 Phenotypes for gene: NDUFAF5 were set to Mitochondrial complex 1 deficiency, 252010; Mitochondrial Diseases; Isolated complex I deficiency