Mitochondrial disorders
Gene: NDUFC2

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

3 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Created: 1 Feb 2023, 12:16 p.m. | Last Modified: 1 Feb 2023, 12:16 p.m.

Panel Version: 3.6

Created: 1 Feb 2023, 12:16 p.m.
Last Modified: 1 Feb 2023, 12:16 p.m.
Panel version: 3.6

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

This gene was recently included on a gene list provided by Carl Fratter (Oxford University Hospitals NHS Trust) on behalf of GMS Mitochondrial providers, supporting the Green rating of this gene on Mitochondrial panels (R353 and R63). As there was sufficient supporting evidence for the rating upgrade on those panels, the rating should also be updated to Green on this panel at the next GMS review. 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: 30 Aug 2022, 9:08 a.m. | Last Modified: 30 Aug 2022, 9:08 a.m.

Panel Version: 2.123

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex I deficiency, nuclear type 36, OMIM: 619170

Publications

32969598

Created: 30 Aug 2022, 9:08 a.m.
Last Modified: 30 Aug 2022, 9:08 a.m.
Panel version: 2.123

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.

Created: 4 Feb 2016, 8:40 p.m.

Panel version: 0.16

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
NHS GMS
Radboud University Medical Center, Nijmegen
Expert list

Phenotypes

Mitochondrial complex I deficiency, nuclear type 36, OMIM:619170

OMIM

603845

Clinvar variants

Variants in NDUFC2

Penetrance

Complete

Publications

32969598

Panels with this gene

History Filter Activity

1 Feb 2023, Gel status: 3

Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q3_22_rating was removed from gene: NDUFC2.

1 Feb 2023, Gel status: 3

Added New Source, Added New Source, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source NHS GMS was added to NDUFC2. Source Expert Review Green was added to NDUFC2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

30 Aug 2022, Gel status: 2