Possible mitochondrial disorder - nuclear genes
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, 1:02 p.m.
Mode of inheritance
Unknown
Phenotypes
No OMIM phenotype
Publications
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: ATP5F1CCreated: 4 Feb 2019, 12:56 p.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 was promoted from Amber to Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.Created: 10 May 2019, 1:06 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, 1:22 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 Possible mitochondrial disorder - nuclear genes. 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