Cardiomyopathies - including childhood onsetGene: TMEM70
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
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: TMEM70; 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
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052
gene: TMEM70 was added gene: TMEM70 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet Mode of inheritance for gene: TMEM70 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TMEM70 were set to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052