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Fetal anomalies

Gene: NDUFB7

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

4 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Created: 12 Dec 2025, 3:10 p.m. | Last Modified: 12 Dec 2025, 3:10 p.m.
Panel Version: 6.120
Created: 12 Dec 2025, 3:10 p.m.
Last Modified: 12 Dec 2025, 3:10 p.m.
Panel version: 6.120

Vicki Harrison (Wessex Clinical Genetics Service)

I don't know

This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Created: 5 Sep 2025, 4:31 p.m. | Last Modified: 5 Sep 2025, 4:31 p.m.
Panel Version: 6.28
Chen et al. one patient IUGR then PN delay, poor feeding, ventral hernia, poor growth, feeding probs, lactic acidosis, MRI abnormal age 4. Correia et al. One patient anaemia (cardiomegaly) from 25/40 2xIUT, IUGR. PN cardiomyopathy, VSD, ASD. MRI d13 cysts, dysplasia of CC.
Created: 5 Sep 2025, 2:55 p.m. | Last Modified: 5 Sep 2025, 2:55 p.m.
Panel Version: 6.24

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex I deficiency, nuclear type 39

Publications

Created: 5 Sep 2025, 2:55 p.m.
Last Modified: 5 Sep 2025, 2:55 p.m.
Panel version: 6.28

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

Following further consultation with the expert group, it was decided that this gene should be rated Green on this panel as there is sufficient evidence to support an association with a prenatal phenotype.
Created: 26 Sep 2025, 2:55 p.m. | Last Modified: 26 Sep 2025, 2:55 p.m.
Panel Version: 6.85
Amber rating has been maintained, inline with the recent review by the R21 Clinical Oversight Group. However, tagging for additional expert review to resolve conflicting reviews - first reviewed as Green by me but then as Amber by Vicki Harrison based on the same evidence.
Created: 5 Sep 2025, 4:41 p.m. | Last Modified: 8 Sep 2025, 4:05 p.m.
Panel Version: 6.82
Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update but this will be flagged for expert review prior to inclusion.

Although only two unrelated cases have been reported to date (PMID: 33502047, 40025060) there is strong functional data and an animal model that support the association. The existence of a therapeutic strategy further supports timely inclusion of this gene on a diagnostic panel.
Created: 18 Mar 2025, 11:12 a.m. | Last Modified: 18 Mar 2025, 11:16 a.m.
Panel Version: 5.84
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: 5.83

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 18 Mar 2025, 11:10 a.m.
Last Modified: 8 Sep 2025, 4:05 p.m.
Panel version: 6.85

Stephanie Allen (Birmingham Women's NHS Foundation Trust)

I don't know

This gene and phenotype were reviewed during a meeting on 2nd March 2023 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, (North Thames GLH), and Stephanie Allen, Denise Williams, Anna de Burca and Megan Horton-Bell (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Amber gene.
Created: 5 May 2023, 3 p.m. | Last Modified: 5 May 2023, 3 p.m.
Panel Version: 3.8
On 4 panels, inc. IEM. No disease associations on OMIM. Correia et al., 2021 PMID 33502047: Px: prenatal features: cardiomegaly at 25wks, intrauterine anaemia, IUGR, oligohydramnios. C section at 36wks. Post birth: SGA, hypertrophic cardiomyopathy with perimembranous VSD, atrial septal defect, pulmonary hypertension, cryptorchidism, hypospadias. At 13do: brain MRI = cysts 'likely due to prenatal events' and possible dysplasia of the CC. Died 55do from cardiorespiratory failure. c.113-10C>G hom. Conclusion: link to prenatal phenotypes (cardiomegaly, IUGR, intrauterine anaemia, oligohydramnios, ?neurological anomalies). Relevant
Created: 5 May 2023, 3 p.m. | Last Modified: 5 May 2023, 3 p.m.
Panel Version: 3.8

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 5 May 2023, 3 p.m.
Last Modified: 5 May 2023, 3 p.m.
Panel version: 3.8

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 39, OMIM:620135
OMIM
603842
Clinvar variants
Variants in NDUFB7
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Dec 2025, Gel status: 3

Removed Tag, Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q1_25_ promote_green was removed from gene: NDUFB7. Tag Q3_25_NHS_review was removed from gene: NDUFB7.

12 Dec 2025, Gel status: 3

Added New Source, Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source Expert Review Green was added to NDUFB7. Source NHS GMS was added to NDUFB7. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

26 Sep 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; Mitochondrial complex I deficiency, nuclear type 39 to Mitochondrial complex I deficiency, nuclear type 39, OMIM:620135

26 Sep 2025, Gel status: 2

Removed Tag, Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q1_25_ expert_review was removed from gene: NDUFB7. Tag Q3_25_NHS_review tag was added to gene: NDUFB7.

5 Sep 2025, Gel status: 2

Set Phenotypes, Set publications

Arina Puzriakova (Genomics England Curator)

Added phenotypes Mitochondrial complex I deficiency, nuclear type 39 for gene: NDUFB7 Publications for gene: NDUFB7 were updated from 33502047; 27626371; 40025060 to 27626371; 40025060; 33502047

18 Mar 2025, Gel status: 2

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q1_25_ expert_review tag was added to gene: NDUFB7.

18 Mar 2025, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

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

18 Mar 2025, Gel status: 2

Added Tag

Arina Puzriakova (Genomics England Curator)

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

5 May 2023, Gel status: 2

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: NDUFB7 were set to

5 May 2023, Gel status: 2

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

Arina Puzriakova (Genomics England Curator)

gene: NDUFB7 was added gene: NDUFB7 was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: NDUFB7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFB7 were set to ?Mitochondrial complex I deficiency, nuclear type 39, OMIM:620135