Inborn errors of metabolismGene: NDUFC2
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
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.
Mode of inheritance for gene: NDUFC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Tag Q2_21_rating tag was added to gene: NDUFC2.
Gene: ndufc2 has been classified as Amber List (Moderate Evidence).
Publications for gene: NDUFC2 were set to
Phenotypes for gene: NDUFC2 were changed from No OMIM phenotype; Isolated complex I deficiency to Mitochondrial complex I deficiency, nuclear type 36 OMIM:619170
Sarah Leigh: Associated with phenotype in O
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