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  3. TACO1
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Paediatric or syndromic cardiomyopathy

Gene: TACO1

Red List (low evidence)
TACO1 (translational activator of cytochrome c oxidase I)
EnsemblGeneIds (GRCh38): ENSG00000136463
EnsemblGeneIds (GRCh37): ENSG00000136463
OMIM: 612958, Gene2Phenotype
TACO1 is in 12 panels

4 reviews

Matthew Edwards (Clinical Genetics & Genomics Lab, Royal Brompton & Harefield NHS Trust)

Red List (low evidence)

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 basis
Created: 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

Created: 26 Nov 2019, 5:49 p.m.
Last Modified: 26 Nov 2019, 5:49 p.m.
Panel version: 0.13

Ivone Leong (Genomics England Curator)

Red List (low evidence)

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

Created: 1 Feb 2019, 4:34 p.m.

Panel version: 0.16

Carl Fratter (Oxford University Hospitals NHS Trust)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Variants in this GENE are reported as part of current diagnostic practice

Created: 5 Nov 2017, 2:38 a.m.

Panel version: Imported from Mitochondrial disorder with complex IV deficiency panel version Imported from Mitochondrial disorders panel version 0

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

Created: 8 Feb 2016, 10:29 a.m.

Panel version: Imported from Mitochondrial disorder with complex IV deficiency panel version Imported from Mitochondrial disorders panel version 0.37

History Filter Activity

2 Dec 2019, Gel status: 1

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Red was added to TACO1. Rating Changed from Green List (high evidence) to Red List (low evidence)

9 Sep 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ivone Leong (Genomics England Curator)

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