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Fetal anomalies

Gene: UQCC2

Amber List (moderate evidence)
UQCC2 (ubiquinol-cytochrome c reductase complex assembly factor 2)
EnsemblGeneIds (GRCh38): ENSG00000137288
EnsemblGeneIds (GRCh37): ENSG00000137288
OMIM: 614461, Gene2Phenotype
UQCC2 is in 7 panels

3 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

This gene and phenotype were reviewed during meetings between November 2024 & January 2025. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Natalie Bibb, and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Sunayna Best, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Esther Kinning, Sahar Mansour, Soo-Mi Park, and Elizabeth Wall (R21 Clinical Oversight Group).
Created: 20 Feb 2025, 9:40 p.m. | Last Modified: 20 Feb 2025, 9:40 p.m.
Panel Version: 5.16
Created: 20 Feb 2025, 9:40 p.m.
Last Modified: 20 Feb 2025, 9:40 p.m.
Panel version: 5.16

Sarah Graham (West Midlands Regional Genetics Laboratory, Birmingham Women's and Children’s NHS Foundation Trust)

I don't know

Green on Australian fetal anomalies panel and on UK mitochondrial/metabolic panels. Rare recessive mitochondrial disorder, only two cases reported, both of which had IUGR and one oligohydramnios (PMID 24385928,28804536).
Created: 20 Feb 2025, 9:35 p.m. | Last Modified: 20 Feb 2025, 9:35 p.m.
Panel Version: 5.15

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex III deficiency, nuclear type 7, MIM#615824

Publications

Created: 20 Feb 2025, 9:35 p.m.
Last Modified: 20 Feb 2025, 9:35 p.m.
Panel version: 5.15

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 7 panels, inc. IEM, severe paediatric disorders. Associated with Mitochondrial complex III deficiency, nuclear type 7 (AR). Tucker et al., 2013 PMID 24385928: Consanguineous Lebanese patient presenting with severe IUGR, neonatal lactic acidosis and renal tubular dysfunction. c.214-3C>G hom -> aberrant splicing. Also, baby had unilateral post-axial polydactyly and father had similar facial features and cleft palate, raising the possibility of a second, AD condition. Prenatal features not sufficiently specific to include. Feichtinger et al., 2017 PMID 28804536: Pregnancy complicated by IUGR, oligohydramnios and breech position. Born at 32 weeks. Died due to respiratory failure 33do. c.23G>C p.(Arg8Pro) hom and c.28C>T p.(Leu10Phe) hom. Conclusion: weak link to prenatal phenotype (IUGR, oligohydramnios). ?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 III deficiency, nuclear type 7, OMIM:615824

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 Amber
Phenotypes
  • Mitochondrial complex III deficiency, nuclear type 7, OMIM:615824
OMIM
614461
Clinvar variants
Variants in UQCC2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2025, Gel status: 2

Added New Source

Achchuthan Shanmugasundram (Genomics England Curator)

Source NHS GMS was added to UQCC2.

5 May 2023, Gel status: 2

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: UQCC2 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: UQCC2 was added gene: UQCC2 was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: UQCC2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: UQCC2 were set to Mitochondrial complex III deficiency, nuclear type 7, OMIM:615824