Mitochondrial disorder with complex V deficiency
Gene: ATP5C1
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
ATP5C1 has a new gene name: ATP5F1CCreated: 4 Feb 2019, 11:47 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: ATP5F1C; 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 ATP5F1CCreated: 21 Mar 2018, 12:54 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, 12:32 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, 1:12 p.m.
Comment on list classification: Candidate gene therefore should remain on the red list.Created: 26 Feb 2016, 12:43 p.m.
no mutation reports in literature;
good candidate gene for mitochondrial complex V (ATP synthase) deficiencyCreated: 3 Feb 2016, 6:03 p.m.
Gene: atp5c1 has been classified as Amber List (Moderate Evidence).
Gene: atp5c1 has been classified as Amber List (Moderate Evidence).
Tag new-gene-name tag was added to gene: ATP5C1.
gene: ATP5C1 was added gene: ATP5C1 was added to Mitochondrial disorder with complex V deficiency. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: ATP5C1 was set to Unknown Phenotypes for gene: ATP5C1 were set to No OMIM phenotype