Inherited white matter disorders
Gene: TACO1EnsemblGeneIds (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)
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
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- White matter disorders and cerebral calcification - narrow panel
- Mitochondrial disorders
- Possible mitochondrial disorder - nuclear genes
- DDG2P
- Paediatric or syndromic cardiomyopathy
- Intellectual disability
- Mitochondrial disorder with complex IV deficiency
- Inherited white matter disorders
- Fetal anomalies
- Undiagnosed metabolic disorders
History Filter Activity
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.
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
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)
Added New Source
Ian Berry (Leeds Genetics Laboratory)TACO1 was added to Inherited white matter disorderspanel. Sources: Expert list
Created
Ian Berry (Leeds Genetics Laboratory)TACO1 was created by [email protected]