Cardiomyopathies - including childhood onsetGene: TSFM
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
Combined oxidative phosphorylation deficiency 3 OMIM#610505
Created: 25 Mar 2019, 4:30 p.m.
AR Multisystemic disorder which a feature can be HCM. https://omim.org/clinicalSynopsis/610505. Associated infantile mitochondrial cardiomyopathy - rare: Ahola Neurology 2014;83:743751 - seen in two families with infantile mitochondrial disorder with cardiomyopathy.
Created: 25 Mar 2019, 4:27 p.m.
Source NHS GMS was added to TSFM.
gene: TSFM was added gene: TSFM was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,South West GLH Mode of inheritance for gene: TSFM was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TSFM were set to 27604308 Phenotypes for gene: TSFM were set to Combined oxidative phosphorylation deficiency 3, 610505; Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Combined oxidative phosphorylation deficiency 3 610505