Mitochondrial disorder with complex I deficiency
Gene: NDUFS5
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
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: NDUFS5; Suggested intial gene rating: Green.Created: 1 Feb 2019, 4:29 p.m.
Mode of inheritance
Unknown
Phenotypes
No OMIM phenotype
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, 10:24 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.
Comment on list classification: Candidate gene.Created: 8 Feb 2016, 2:50 p.m.
no pathogenic mutations reported to date but good candidate gene for mitochondrial complex I deficiencyCreated: 3 Feb 2016, 5:31 p.m.
Gene: ndufs5 has been classified as Amber List (Moderate Evidence).
Gene: ndufs5 has been classified as Amber List (Moderate Evidence).
gene: NDUFS5 was added gene: NDUFS5 was added to Mitochondrial disorder with complex I deficiency. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: NDUFS5 was set to Unknown Phenotypes for gene: NDUFS5 were set to No OMIM phenotype