Mitochondrial disorder with complex V deficiency
Gene: ATP5L2Comment 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: 1.4
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, 1:15 p.m.
ATP5L2 has a new gene name: ATP5MGLCreated: 4 Feb 2019, noon
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: ATP5MGL; Suggested intial gene rating: Green.Created: 4 Feb 2019, 10:48 a.m.
Mode of inheritance
Unknown
Phenotypes
No OMIM phenotype
Gene: atp5l2 has been classified as Red List (Low Evidence).
Gene: atp5l2 has been classified as Amber List (Moderate Evidence).
Gene: atp5l2 has been classified as Amber List (Moderate Evidence).
Tag new-gene-name tag was added to gene: ATP5L2.
gene: ATP5L2 was added gene: ATP5L2 was added to Mitochondrial disorder with complex V deficiency. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: ATP5L2 was set to Unknown Phenotypes for gene: ATP5L2 were set to No OMIM phenotype