Genes in panel

Inborn errors of metabolism

Gene: NDUFC2

Amber List (moderate evidence)

NDUFC2 (NADH:ubiquinone oxidoreductase subunit C2)
EnsemblGeneIds (GRCh38): ENSG00000151366
EnsemblGeneIds (GRCh37): ENSG00000151366
OMIM: 603845, Gene2Phenotype
NDUFC2 is in 5 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Created: 9 Feb 2021, 5:04 p.m. | Last Modified: 9 Feb 2021, 5:04 p.m.
Panel Version: 2.66
Associated with relevant phenotype in OMIM, but not Gen2Phen. At least 2 variants have been reported in two unrelated cases, together with supportive functional evidence (PMID 32969598). There are also 2 families with complex I deficiency with reported by Carl Fratter (10 May 2019, Oxford University Hospitals NHS Trust).
Created: 9 Feb 2021, 5:02 p.m. | Last Modified: 9 Feb 2021, 5:02 p.m.
Panel Version: 2.65
Comment on phenotypes: Assigned a phenotype by OMIM 02/02/2021
Created: 9 Feb 2021, 4:43 p.m. | Last Modified: 9 Feb 2021, 4:43 p.m.
Panel Version: 2.64

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, 8:40 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 36 OMIM:619170
Tags
Q2_21_rating
OMIM
603845
Clinvar variants
Variants in NDUFC2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Feb 2021, Gel status: 2

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for gene: NDUFC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

9 Feb 2021, Gel status: 2

Added Tag

Sarah Leigh (Genomics England Curator)

Tag Q2_21_rating tag was added to gene: NDUFC2.

9 Feb 2021, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: ndufc2 has been classified as Amber List (Moderate Evidence).

9 Feb 2021, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: NDUFC2 were set to

9 Feb 2021, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: NDUFC2 were changed from No OMIM phenotype; Isolated complex I deficiency to Mitochondrial complex I deficiency, nuclear type 36 OMIM:619170

8 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with phenotype in O

16 Dec 2018, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: NDUFC2 was added gene: NDUFC2 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: NDUFC2 was set to Unknown Phenotypes for gene: NDUFC2 were set to No OMIM phenotype; Isolated complex I deficiency