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Undiagnosed metabolic disorders

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

1 review

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, 4:49 p.m. | Last Modified: 9 Feb 2021, 4:49 p.m.
Panel Version: 1.445
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, 4:48 p.m. | Last Modified: 9 Feb 2021, 4:48 p.m.
Panel Version: 1.444
Sources: Literature
Created: 9 Feb 2021, 4:38 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
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

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

Added Tag

Sarah Leigh (Genomics England Curator)

Tag Q2_21_rating tag was added to gene: NDUFC2.

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

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

Sarah Leigh (Genomics England Curator)

gene: NDUFC2 was added gene: NDUFC2 was added to Undiagnosed metabolic disorders. Sources: Literature 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 Review for gene: NDUFC2 was set to GREEN