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Inborn errors of metabolism

Gene: NDUFB8

Green List (high evidence)

NDUFB8 (NADH:ubiquinone oxidoreductase subunit B8)
EnsemblGeneIds (GRCh38): ENSG00000166136
EnsemblGeneIds (GRCh37): ENSG00000166136
OMIM: 602140, Gene2Phenotype
NDUFB8 is in 6 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Comment on list classification: This gene was added as Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter (May 2019) on behalf of GMS mitochondrial specialist test group: 2 unrelated cases with functional studies.
From panels: Possible mitochondrial disorder - nuclear genes (Version 0.187) and Mitochondrial disorder with complex I deficiency (Version 0.65).
Created: 23 May 2019, 2:58 p.m.

Shamima Rahman (UCL Institute of Child Health)

I don't know

no mutation reports in literature; good candidate gene for complex I deficiency (encodes a subunit of the enzyme)
Created: 4 Feb 2016, 8:27 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 32, 618252
  • No OMIM phenotype
  • Isolated complex I deficiency
OMIM
602140
Clinvar variants
Variants in NDUFB8
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Aug 2019, Gel status: 3

Added New Source, Set mode of inheritance, Set Phenotypes, Set publications, Status Update

Sarah Leigh (Genomics England Curator)

Source Expert Review Green was added to NDUFB8. Mode of inheritance for gene NDUFB8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Mitochondrial complex I deficiency, nuclear type 32, 618252 for gene: NDUFB8 Publications for gene NDUFB8 were changed from to 27290639; 29429571 Rating Changed from Red List (low evidence) to Green List (high evidence)

8 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with phenotype in O

16 Dec 2018, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: NDUFB8 was added gene: NDUFB8 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: NDUFB8 was set to Unknown Phenotypes for gene: NDUFB8 were set to No OMIM phenotype; Isolated complex I deficiency