Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Possible mitochondrial disorder - nuclear genes

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

5 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Comment on phenotypes: Assigned a phenotype by OMIM 02/02/2021
Created: 9 Feb 2021, 4:40 p.m. | Last Modified: 9 Feb 2021, 4:42 p.m.
Panel Version: 1.34
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 (review below 10 May 2019).
Created: 26 Jan 2021, 11:46 a.m. | Last Modified: 9 Feb 2021, 5:02 p.m.
Panel Version: 1.34
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Created: 26 Jan 2021, 11:40 a.m. | Last Modified: 26 Jan 2021, 11:40 a.m.
Panel Version: 1.28

Carl Fratter (Oxford University Hospitals NHS Trust)

Green List (high evidence)

Suggest update to green in view of recent publication
Created: 24 Jan 2021, 4:39 p.m. | Last Modified: 24 Jan 2021, 4:39 p.m.
Panel Version: 1.21
Updated information and Amber review collated by Carl Fratter May 2019 on behalf of GMS mitochondrial specialist test group: Aware of 2 unreported familes with complex I deficiency
Created: 10 May 2019, 1:02 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
No OMIM phenotype

Publications

Ellen McDonagh (Genomics England Curator)

Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.141) - further evidence needs to be submitted to support promoting this gene family member to Green.
Created: 29 Mar 2019, 2 p.m.

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.
Created: 4 Feb 2019, 1:36 p.m.

Mode of inheritance
Unknown

Phenotypes
No OMIM phenotype

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
  • NHS GMS
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 36 OMIM:619170
Tags
for-review
OMIM
603845
Clinvar variants
Variants in NDUFC2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Feb 2021, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: NDUFC2 were changed from No OMIM phenotype; early-onset Leigh syndrome and stalled biogenesis of complex I to Mitochondrial complex I deficiency, nuclear type 36 OMIM:619170

26 Jan 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).

26 Jan 2021, Gel status: 2

Added Tag

Sarah Leigh (Genomics England Curator)

Tag for-review tag was added to gene: NDUFC2.

26 Jan 2021, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: NDUFC2 were changed from No OMIM phenotype to No OMIM phenotype; early-onset Leigh syndrome and stalled biogenesis of complex I

26 Jan 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

26 Jan 2021, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: NDUFC2 were set to

29 Mar 2019, Gel status: 2

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

4 Feb 2019, Gel status: 4

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

Ivone Leong (Genomics England Curator)

gene: NDUFC2 was added gene: NDUFC2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: NDUFC2 was set to Unknown Phenotypes for gene: NDUFC2 were set to No OMIM phenotype