Mitochondrial disorder with complex I deficiency
Gene: NDUFC1
Updated information and Amber review collated by Carl Fratter May 2019 on behalf of GMS mitochondrial specialist test group: no reports of human disease; complex I subunitCreated: 10 May 2019, 9:50 a.m.
Mode of inheritance
Unknown
Phenotypes
No OMIM phenotype
Publications
Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.Created: 10 May 2019, 10:22 a.m.
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 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.Created: 29 Mar 2019, 11:07 a.m.
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. Gene Symbol submitted: NDUFC1; Suggested intial gene rating: Green.Created: 1 Feb 2019, 4:29 p.m.
Mode of inheritance
Unknown
Phenotypes
No OMIM phenotype
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.
Gene: ndufc1 has been classified as Amber List (Moderate Evidence).
Gene: ndufc1 has been classified as Amber List (Moderate Evidence).
gene: NDUFC1 was added gene: NDUFC1 was added to Mitochondrial disorder with complex I deficiency. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: NDUFC1 was set to Unknown Phenotypes for gene: NDUFC1 were set to No OMIM phenotype