Genes in panel

Inborn errors of metabolism

Gene: NDUFB7

Amber List (moderate evidence)

NDUFB7 (NADH:ubiquinone oxidoreductase subunit B7)
EnsemblGeneIds (GRCh38): ENSG00000099795
EnsemblGeneIds (GRCh37): ENSG00000099795
OMIM: 603842, Gene2Phenotype
NDUFB7 is in 4 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Comment on phenotypes: No OMIM or MONDO phenotype (21/4/2021)
Created: 21 Apr 2021, 1:01 p.m. | Last Modified: 21 Apr 2021, 1:01 p.m.
Panel Version: 2.124
Comment on list classification: Comment on list classification: Not associated with relevant phenotype in OMIM or Gen2Phen. At least one biallelic splicing variant reported. RNA sequencing revealed that this variant disrupted normal splicing (PMID 33502047) and human knock-out cells have shown that NDUFB7 is one of the subunits strictly required for assembly of a functional mitochondrial complex I subunit, which is essential for cell viability (PMID 27626371).
Created: 21 Apr 2021, 12:57 p.m. | Last Modified: 21 Apr 2021, 12:57 p.m.
Panel Version: 2.122

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, 8:26 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Congenital lactic acidosis
  • hypertrophic cardiomyopathy
Tags
watchlist
OMIM
603842
Clinvar variants
Variants in NDUFB7
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Apr 2021, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: NDUFB7 were changed from No OMIM phenotype; Isolated complex I deficiency to Congenital lactic acidosis; hypertrophic cardiomyopathy

21 Apr 2021, Gel status: 2

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for gene: NDUFB7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

21 Apr 2021, Gel status: 2

Added Tag

Sarah Leigh (Genomics England Curator)

Tag watchlist tag was added to gene: NDUFB7.

21 Apr 2021, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: ndufb7 has been classified as Amber List (Moderate Evidence).

21 Apr 2021, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: NDUFB7 were set to 33502047; 27626371

21 Apr 2021, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: NDUFB7 were set to

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: NDUFB7 was added gene: NDUFB7 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: NDUFB7 was set to Unknown Phenotypes for gene: NDUFB7 were set to No OMIM phenotype; Isolated complex I deficiency