Mitochondrial disorder with complex I deficiency
Gene: NDUFAF7Comment on list classification: Demoting from Amber to Red as this gene has not been associated with human disease.Created: 12 Mar 2024, 5:01 p.m. | Last Modified: 12 Mar 2024, 5:01 p.m.
Panel Version: 3.8
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 accessory subunitCreated: 10 May 2019, 9:50 a.m.
Mode of inheritance
Unknown
Phenotypes
No OMIM phenotype
Publications
Comment on list classification: 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, 10:11 a.m.
Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently not on the Mitochondrial disorders panel (code 112, Version 1.131) and is not associated with a disease in OMIM - further evidence needs to be submitted to support promoting this gene family member to Green.Created: 29 Mar 2019, 11 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: NDUFAF7; Suggested intial gene rating: Green.Created: 1 Feb 2019, 4:29 p.m.
Mode of inheritance
Unknown
Phenotypes
No OMIM phenotype
Gene: ndufaf7 has been classified as Red List (Low Evidence).
Publications for gene: NDUFAF7 were set to
Gene: ndufaf7 has been classified as Amber List (Moderate Evidence).
Gene: ndufaf7 has been classified as Amber List (Moderate Evidence).
Gene: ndufaf7 has been classified as Amber List (Moderate Evidence).
gene: NDUFAF7 was added gene: NDUFAF7 was added to Mitochondrial disorder with complex I deficiency. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: NDUFAF7 was set to Unknown Phenotypes for gene: NDUFAF7 were set to No OMIM phenotype