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  3. NDUFB3
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Fetal anomalies

Gene: NDUFB3

Green List (high evidence)
NDUFB3 (NADH:ubiquinone oxidoreductase subunit B3)
EnsemblGeneIds (GRCh38): ENSG00000119013
EnsemblGeneIds (GRCh37): ENSG00000119013
OMIM: 603839, Gene2Phenotype
NDUFB3 is in 9 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Created: 10 Oct 2023, 3:39 p.m. | Last Modified: 10 Oct 2023, 3:39 p.m.
Panel Version: 3.111

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 10 Oct 2023, 3:39 p.m.
Last Modified: 10 Oct 2023, 3:39 p.m.
Panel version: 3.111

Stephanie Allen (Birmingham Women's NHS Foundation Trust)

Green List (high evidence)

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 Green gene.
Created: 5 May 2023, 3 p.m. | Last Modified: 5 May 2023, 3 p.m.
Panel Version: 3.8
On 8 panels, inc. severe paediatric disorders and IEM. Associated with Mitochondrial complex I deficiency, nuclear type 25 (AR). Calvo et al., 2012 PMID 22277967: Px 3: severe IUGR, premature birth at 31wks; died 4mo. c.64T>C p.(Trp22Arg). Alston et al., 2016 PMID 27091925: Px2: IUGR. Born at 30wks. Px3: IUGR and oligohydramnios Born at 30wks. Px4: growth restriction.Born at 29wks. Px5: IUGR. Born at 37wks Px6: IUGR, oligohydramnios. Born at 37wks. FHx of neonatal death. Px7: sibling of 6. IUGR. Born at 36wks. Px9: IUGR. Px10: IUGR, dysmorphic with partial agenesis CC. Born at 31wks. All patients: short stature and characteristic facial features (prominent forehead, poorly defined philtrum and deep set eyes). Majority of patients presented following life-threatening metabolic crisis early in life followed by period of sustained improvement. All px had c.64T>C p.(Trp22Arg) hom. Conclusion: link to prenatal phenotypes (IUGR, oligohydramnios, dysmorphic facial features, partial agenesis CC). Often -> premature birth. 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 25, OMIM:618246

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 25, OMIM:618246
OMIM
603839
Clinvar variants
Variants in NDUFB3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Oct 2023, Gel status: 3

Removed Tag, Removed Tag

Sarah Leigh (Genomics England Curator)

Tag Q2_23_promote_green was removed from gene: NDUFB3. Tag Q2_23_NHS_review was removed from gene: NDUFB3.

10 Oct 2023, Gel status: 3

Added New Source, Added New Source, Status Update

Sarah Leigh (Genomics England Curator)

Source Expert Review Green was added to NDUFB3. Source NHS GMS was added to NDUFB3. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

5 May 2023, Gel status: 2

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: NDUFB3 were set to

5 May 2023, Gel status: 2

Added Tag, Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q2_23_promote_green tag was added to gene: NDUFB3. Tag Q2_23_NHS_review tag was added to gene: NDUFB3.

5 May 2023, Gel status: 2

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

Arina Puzriakova (Genomics England Curator)

gene: NDUFB3 was added gene: NDUFB3 was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: NDUFB3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFB3 were set to Mitochondrial complex I deficiency, nuclear type 25, OMIM:618246