Inherited white matter disorders

Gene: TACO1

Green List (high evidence)

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

2 reviews

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Gene rated green and diagnostic-grade by expert reviewer. It is a probable DD gene for LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX IV DEFICIENCY. Two families with different variants reported in OMIM; no additional family or case reports found in a literature search, however additional functional and animal model evidence. On the Minimum recommended gene list for broad spectrum genetic testing for single-nucleotide variants associated with leukodystrophies and genetic leukoencephalopathies reported in PMID: 25655951 for Mitochondrial complex IV disorders. Green gene in the Mitochondrial panel version 1.10.
Created: 25 Aug 2016, 2:01 p.m.

Ian Berry (Leeds Genetics Laboratory)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
General Leukodystrophy & Mitochondrial Leukoencephalopathy

Publications

  • Parikh et al. Molecular Genetics and Metabolism 114 (2015) 501_668

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Mitochondrial Leukoencephalopathy
OMIM
612958
Clinvar variants
Variants in TACO1
Penetrance
Complete
Publications
  • 25655951
  • 27319982 - mouse model with a missense variant causing loss of the translational activator of TACO1 have isolated complex IV deficiency
  • 20727754 and 19503089 (same patients)
Panels with this gene

History Filter Activity

6 Oct 2016, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

6th Oct 2016: Panel promoted to version 1 after expert review and input, further curation and clinical input.

6 Oct 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

6 Oct 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

25 Aug 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

25 Aug 2016, Gel status: 0

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for TACO1 were set to 25655951; 27319982 - mouse model with a missense variant causing loss of the translational activator of TACO1 have isolated complex IV deficiency; 20727754 and 19503089 (same patients)

4 Aug 2016, Gel status: 0

Added New Source

Ian Berry (Leeds Genetics Laboratory)

TACO1 was added to Inherited white matter disorderspanel. Sources: Expert list

4 Aug 2016, Gel status: 0

Created

Ian Berry (Leeds Genetics Laboratory)

TACO1 was created by [email protected]