Mitochondrial disorder with complex V deficiency
Gene: ATP5J
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
ATP5J has a new gene name: ATP5PFCreated: 4 Feb 2019, 11:58 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: ATP5PF; Suggested intial gene rating: Green.Created: 4 Feb 2019, 10:48 a.m.
Mode of inheritance
Unknown
Phenotypes
No OMIM phenotype
Added new-gene-name tag, new approved HGNC gene symbol is ATP5PFCreated: 21 Mar 2018, 12:45 p.m.
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, 12:39 p.m.
Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red 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.
Comment when marking as ready: Candidate gene - kept as red.Created: 26 Feb 2016, 1:38 p.m.
no mutation reports in literature;
good candidate gene for mitochondrial complex V (ATP synthase) deficiencyCreated: 3 Feb 2016, 6:11 p.m.
Gene: atp5j has been classified as Amber List (Moderate Evidence).
Gene: atp5j has been classified as Amber List (Moderate Evidence).
Tag new-gene-name tag was added to gene: ATP5J.
gene: ATP5J was added gene: ATP5J was added to Mitochondrial disorder with complex V deficiency. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: ATP5J was set to Unknown Phenotypes for gene: ATP5J were set to No OMIM phenotype