Mitochondrial disorder with complex V deficiency
Gene: ATP5LComment on list classification: Demoting to Red as there is no evidence for Mendelian gene-disease association at this timeCreated: 29 Jul 2022, 1:07 p.m. | Last Modified: 29 Jul 2022, 1:07 p.m.
Panel Version: 1.5
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, 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, 12:40 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, 1:14 p.m.
ATP5L has a new gene name: ATP5MGCreated: 4 Feb 2019, 11:59 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: ATP5MG; Suggested intial gene rating: Green.Created: 4 Feb 2019, 10:48 a.m.
Mode of inheritance
Unknown
Phenotypes
No OMIM phenotype
Gene: atp5l has been classified as Red List (Low Evidence).
Gene: atp5l has been classified as Amber List (Moderate Evidence).
Gene: atp5l has been classified as Amber List (Moderate Evidence).
Tag new-gene-name tag was added to gene: ATP5L.
gene: ATP5L was added gene: ATP5L was added to Mitochondrial disorder with complex V deficiency. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: ATP5L was set to Unknown Phenotypes for gene: ATP5L were set to No OMIM phenotype