Mitochondrial disorder with complex V deficiency
Gene: ATPAF1Comment on list classification: Demoting from Amber to Red as this gene has not been associated with human disease.Created: 12 Mar 2024, 5:07 p.m. | Last Modified: 12 Mar 2024, 5:07 p.m.
Panel Version: 2.16
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 V assembly factorCreated: 10 May 2019, 12:10 p.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, 12:41 p.m.
Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is not currently 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, 1:16 p.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: ATPAF1; Suggested intial gene rating: Green.Created: 4 Feb 2019, 10:48 a.m.
Mode of inheritance
Unknown
Phenotypes
No OMIM phenotype
Gene: atpaf1 has been classified as Red List (Low Evidence).
Gene: atpaf1 has been classified as Amber List (Moderate Evidence).
Gene: atpaf1 has been classified as Amber List (Moderate Evidence).
gene: ATPAF1 was added gene: ATPAF1 was added to Mitochondrial disorder with complex V deficiency. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: ATPAF1 was set to Unknown Phenotypes for gene: ATPAF1 were set to No OMIM phenotype