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Intellectual disability syndromic and non-syndromic

Gene: TACO1

Amber List (moderate evidence)

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

1 review

Chirag Patel (Genetic Health Queensland)

I don't know

1 big consanguinous family with 5 affected members with segregation. Synthesis of the MTCO1 subunit was decreased by approximately 65%, and there was a greatly reduced steady-state level of fully assembled complex IV. Expression of wildtype TACO1 rescued the MTCO1 assembly defect and complex IV activity.

1 consanguineous Egyptian family with 2 affected sibs with segregation. Functional studies were not performed.
Created: 10 Dec 2019, 6:17 a.m. | Last Modified: 10 Dec 2019, 6:17 a.m.
Panel Version: 0.1155

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex IV deficiency; OMIM #220110

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Mitochondrial complex IV deficiency
  • OMIM #220110
OMIM
612958
Clinvar variants
Variants in TACO1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Jan 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: taco1 has been classified as Amber List (Moderate Evidence).

10 Dec 2019, Gel status: 2

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: taco1 has been classified as Amber List (Moderate Evidence).

10 Dec 2019, Gel status: 3

Removed Source, Added New Source, Set mode of inheritance, Set Phenotypes, Set publications

Chirag Patel (Genetic Health Queensland)

Source Genetic Health Queensland was removed from TACO1. Source Expert list was added to TACO1. Mode of inheritance for gene TACO1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TACO1 were changed from to Mitochondrial complex IV deficiency; OMIM #220110 Publications for gene TACO1 were changed from PubMed: 19503089; 20727754; 25044680 to PubMed: 19503089; 20727754; 25044680

22 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 Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TACO1 was set to Unknown