Inherited white matter disorders
Gene: TACO1Comment 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.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
General Leukodystrophy & Mitochondrial Leukoencephalopathy
Publications
Variants in this GENE are reported as part of current diagnostic practice
6th Oct 2016: Panel promoted to version 1 after expert review and input, further curation and clinical input.
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
This gene has been classified as Amber List (Moderate Evidence).
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)
TACO1 was added to Inherited white matter disorderspanel. Sources: Expert list
TACO1 was created by [email protected]