Possible mitochondrial disorder - nuclear genes
Gene: ATP5D
Updated information and Green review collated by Carl Fratter May 2019 on behalf of GMS mitochondrial specialist test group: 2 unrelated children and functional studiesCreated: 10 May 2019, 1:02 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex V (ATP synthase) deficiency, 618120
Publications
Comment on list classification: 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, 1:07 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, 1:23 p.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.Created: 4 Feb 2019, 1:36 p.m.
New gene symbol: ATP5F1DCreated: 4 Feb 2019, 12:57 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex V (ATP synthase) deficiency, 618120
Gene: atp5d has been classified as Green List (High Evidence).
Gene: atp5d has been classified as Green List (High Evidence).
Publications for gene: ATP5D were set to
Gene: atp5d has been classified as Amber List (Moderate Evidence).
Tag new-gene-name tag was added to gene: ATP5D.
gene: ATP5D was added gene: ATP5D was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: ATP5D was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ATP5D were set to Mitochondrial complex V (ATP synthase) deficiency, 618120