Possible mitochondrial disorder - nuclear genes
Gene: ATP5F1Comment on list classification: Demoting to Red as there is no evidence for Mendelian gene-disease association at this timeCreated: 29 Jul 2022, 1:11 p.m. | Last Modified: 29 Jul 2022, 1:11 p.m.
Panel Version: 1.87
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 subunitCreated: 10 May 2019, 1:02 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, 1:08 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, 1:23 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.Created: 4 Feb 2019, 1:36 p.m.
New gene symbol: ATP5PBCreated: 4 Feb 2019, 1:02 p.m.
Mode of inheritance
Unknown
Phenotypes
No OMIM phenotype
Gene: atp5f1 has been classified as Red List (Low Evidence).
Gene: atp5f1 has been classified as Amber List (Moderate Evidence).
Gene: atp5f1 has been classified as Amber List (Moderate Evidence).
Tag new-gene-name tag was added to gene: ATP5F1.
gene: ATP5F1 was added gene: ATP5F1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: ATP5F1 was set to Unknown Phenotypes for gene: ATP5F1 were set to No OMIM phenotype