Likely inborn error of metabolism
Gene: NDUFB7

NDUFB7 (NADH:ubiquinone oxidoreductase subunit B7)
EnsemblGeneIds (GRCh38): ENSG00000099795
EnsemblGeneIds (GRCh37): ENSG00000099795
OMIM: 603842, Gene2Phenotype
NDUFB7 is in 6 panels

3 reviews

Arina Puzriakova (Genomics England Curator)

PMID: 40025060 was identified by the Genomics England Applied Machine Learning (ML) team in a Biocuration-ML project for identifying new gene-disease associations using Natural Language Processing (NLP) and Generative AI techniques.
Created: 18 Mar 2025, 11:11 a.m. | Last Modified: 18 Mar 2025, 11:11 a.m.

Panel Version: 7.15

PMID: 40025060 (2025) - another patient with compound heterozygous variants (c.133_135del; p.Glu45del and c.311G>C; p.Arg104Pro) in NDUFB7 presented with features of mitochondrial disease including pons abnormality, lactic acidosis, prematurity, prenatal and postnatal growth deficiency, ventral hernia, and pseudo-obstruction. Unlike the previously reported patient who died 55 days after birth, this patient was stable at 20 years old at the time of reporting, following multiple surgeries and ongoing treatment with CoenzymeQ and vitamin B complex.

The patient’s skin fibroblasts were deficient in Complex I assembly and reduced supercomplex formation. A knockdown Ndufb7 zebrafish model exhibited brain ventricle and neuronal defects, elevated lactic acid levels, and reduced oxygen consumption, indicating defective mitochondrial respiration. These phenotypes were rescued by ectopic expression of ndufb7.
Created: 18 Mar 2025, 11:10 a.m. | Last Modified: 18 Mar 2025, 11:10 a.m.

Panel Version: 7.15

Created: 18 Mar 2025, 11:10 a.m.
Last Modified: 18 Mar 2025, 11:10 a.m.
Panel version: 7.15

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

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.

Created: 4 Feb 2016, 8:26 p.m.

Panel version: Imported from Mitochondrial disorders panel version 0.16

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Amber

Phenotypes

Mitochondrial complex I deficiency, nuclear type 39, OMIM:620135

Tags

Q1_25_ promote_green

OMIM

603842

Clinvar variants

Variants in NDUFB7

Penetrance

None

Publications

Panels with this gene

History Filter Activity

18 Mar 2025, Gel status: 2

Removed Tag, Added Tag

Arina Puzriakova (Genomics England Curator)

Tag watchlist was removed from gene: NDUFB7. Tag Q1_25_ promote_green tag was added to gene: NDUFB7.

18 Mar 2025, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: NDUFB7 were changed from ?Mitochondrial complex I deficiency, nuclear type 39, OMIM:620135 to Mitochondrial complex I deficiency, nuclear type 39, OMIM:620135

18 Mar 2025, Gel status: 2

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: NDUFB7 were set to 33502047; 27626371

13 Apr 2023, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: NDUFB7 were changed from Congenital lactic acidosis; hypertrophic cardiomyopathy to ?Mitochondrial complex I deficiency, nuclear type 39, OMIM:620135

21 Apr 2021, Gel status: 2