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Fetal anomalies

Gene: NDUFC2

Amber List (moderate evidence)
NDUFC2 (NADH:ubiquinone oxidoreductase subunit C2)
EnsemblGeneIds (GRCh38): ENSG00000151366
EnsemblGeneIds (GRCh37): ENSG00000151366
OMIM: 603845, Gene2Phenotype
NDUFC2 is in 6 panels

1 review

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 5 panels, inc. IEM. Associated with Mitochondrial complex I deficiency, nuclear type 36 (AR). Alahmad et al., 2020 PMID 32969598: Subject 2: foetal echocardiogram: mild cardiomegaly, dilated superior vena cava and small VSD. Antenatal ultrasound: dilated cisterna magna and ventriculomegaly. Born at 36wk, birth weight 2nd centile. Postnatal echocardiogram: perimembranous VSD with left pulmonary artery stenosis. Brain MRI at 10do = neurological abnormalities. Died 3yo. Conclusion: link to prenatal phenotype (cardiomegaly, dilated superior vena cava, small VSD, dilated cisterna magna and ventriculomegaly). 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 36, OMIM:619170

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
  • Expert Review Amber
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 36, OMIM:619170
OMIM
603845
Clinvar variants
Variants in NDUFC2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 May 2023, Gel status: 2

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: NDUFC2 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: NDUFC2 was added gene: NDUFC2 was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: NDUFC2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFC2 were set to Mitochondrial complex I deficiency, nuclear type 36, OMIM:619170