Undiagnosed metabolic disorders
Gene: 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, 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: LiteratureCreated: 9 Feb 2021, 4:38 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex I deficiency, nuclear type 36 OMIM:619170
Tag Q2_21_rating was removed from gene: NDUFC2.
Gene: ndufc2 has been classified as Green List (High Evidence).
Gene: ndufc2 has been classified as Amber List (Moderate Evidence).
Tag Q2_21_rating tag was added to gene: NDUFC2.
Publications for gene: NDUFC2 were set to
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