Paediatric or syndromic cardiomyopathy
Gene: TACO1
No good evidence of cardiac involvement, and even if there is, highly unlikely to be presenting feature. A mouse modle develops (late onset?) cardiomyopathy, but not enough evidence for effect in humans. Not appropriate for this panel on that basisCreated: 26 Nov 2019, 5:49 p.m. | Last Modified: 26 Nov 2019, 5:49 p.m.
Panel Version: 0.13
Phenotypes
Mitochondrial complex IV deficiency
Publications
Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Red 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: TACO1; Suggested intial gene rating: Green; Information provided: Mode of inheritance and phenotype.Created: 1 Feb 2019, 4:34 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex IV deficiency, 220110
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Source Expert Review Red was added to TACO1. Rating Changed from Green List (high evidence) to Red List (low evidence)
gene: TACO1 was added gene: TACO1 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet Mode of inheritance for gene: TACO1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TACO1 were set to Mitochondrial complex IV deficiency, 220110