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Mitochondrial disease
Gene: TACO1

TACO1 (translational activator of cytochrome c oxidase I)
EnsemblGeneIds (GRCh38): ENSG00000136463
EnsemblGeneIds (GRCh37): ENSG00000136463
OMIM: 612958, Gene2Phenotype
TACO1 is in 8 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Two families and a mouse model.
Created: 29 Feb 2020, 7:12 a.m. | Last Modified: 29 Feb 2020, 7:12 a.m.

Panel Version: 0.105

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex IV deficiency, nuclear type 8, MIM# 619052

Publications

Created: 29 Feb 2020, 7:12 a.m.
Last Modified: 29 Feb 2020, 7:12 a.m.
Panel version: 0.526

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services
Australian Genomics Health Alliance Mitochondrial Flagship

Phenotypes

Mitochondrial complex IV deficiency, nuclear type 8, MIM# 619052

OMIM

Clinvar variants

Variants in TACO1

Penetrance

None

Publications

Panels with this gene

History Filter Activity

25 Oct 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TACO1 were changed from Mitochondrial complex IV deficiency; OMIM #220110 to Mitochondrial complex IV deficiency, nuclear type 8, MIM# 619052

29 Feb 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: taco1 has been classified as Green List (High Evidence).

29 Feb 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TACO1 were changed from to Mitochondrial complex IV deficiency; OMIM #220110

29 Feb 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TACO1 were set to

29 Feb 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: TACO1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TACO1 was added gene: TACO1 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services Mode of inheritance for gene: TACO1 was set to Unknown