Paediatric or syndromic cardiomyopathy
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, 12:10 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, 12:35 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, 1:12 p.m.
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 8 Mar 2022, 11:32 a.m. | Last Modified: 8 Mar 2022, 11:32 a.m.
Panel Version: 1.67
Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.Created: 2 Dec 2019, 3:58 p.m. | Last Modified: 2 Dec 2019, 3:58 p.m.
Panel Version: 0.16
ATP5D has a new gene name: ATP5F1DCreated: 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: ATP5F1D; Suggested intial gene rating: Green; Information provided: Mode of inheritance and phenotype.Created: 4 Feb 2019, 10:48 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex V (ATP synthase) deficiency, 618120
Source Expert Review Amber was added to ATP5D. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Tag new-gene-name tag was added to gene: ATP5D.
gene: ATP5D was added gene: ATP5D was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet Mode of inheritance for gene: ATP5D was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATP5D were set to 29478781 Phenotypes for gene: ATP5D were set to Mitochondrial complex V (ATP synthase) deficiency, 618120